{
  "url": "https://dantelabs.com/fi/genes/serpina1",
  "gene": {
    "slug": "serpina1",
    "symbol": "SERPINA1",
    "name": "serpin family A member 1",
    "hgnc": "HGNC:8941",
    "summary": null,
    "location": "14q32.13",
    "locusType": "gene with protein product",
    "aliases": [
      "AAT",
      "A1A",
      "PI1",
      "alpha-1-antitrypsin",
      "A1AT",
      "alpha1AT"
    ],
    "previousSymbols": [
      "PI"
    ],
    "ensemblId": "ENSG00000197249",
    "entrezId": 5265,
    "omim": [
      "107400"
    ],
    "uniprot": [
      "P01009"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 94376747,
      "end": 94388602,
      "strand": "-",
      "ensemblTranscript": "ENST00000393087.9",
      "refseqTranscript": "NM_000295.5",
      "ensemblProtein": "ENSP00000376802.4",
      "refseqProtein": "NP_000286.3",
      "exons": [
        {
          "start": 94376747,
          "end": 94378640
        },
        {
          "start": 94379464,
          "end": 94379611
        },
        {
          "start": 94380871,
          "end": 94381141
        },
        {
          "start": 94382592,
          "end": 94383241
        },
        {
          "start": 94388560,
          "end": 94388602
        }
      ],
      "cds": {
        "start": 94378449,
        "end": 94383237
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 94843084,
      "end": 94857030,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 93882675,
      "end": 94882674,
      "genes": [
        {
          "symbol": "FAM181A",
          "ensemblId": "ENSG00000140067",
          "biotype": "protein_coding",
          "start": 93918894,
          "end": 93929608,
          "strand": "+",
          "slug": "fam181a"
        },
        {
          "symbol": "ASB2",
          "ensemblId": "ENSG00000100628",
          "biotype": "protein_coding",
          "start": 93933783,
          "end": 93978831,
          "strand": "-",
          "slug": "asb2"
        },
        {
          "symbol": "CCDC197",
          "ensemblId": "ENSG00000175699",
          "biotype": "protein_coding",
          "start": 93987166,
          "end": 94008863,
          "strand": "+",
          "slug": "ccdc197"
        },
        {
          "symbol": "OTUB2",
          "ensemblId": "ENSG00000089723",
          "biotype": "protein_coding",
          "start": 94026329,
          "end": 94049618,
          "strand": "+",
          "slug": "otub2"
        },
        {
          "symbol": "DDX24",
          "ensemblId": "ENSG00000089737",
          "biotype": "protein_coding",
          "start": 94048287,
          "end": 94081216,
          "strand": "-",
          "slug": "ddx24"
        },
        {
          "symbol": "IFI27L1",
          "ensemblId": "ENSG00000165948",
          "biotype": "protein_coding",
          "start": 94081271,
          "end": 94103846,
          "strand": "+",
          "slug": "ifi27l1"
        },
        {
          "symbol": "IFI27",
          "ensemblId": "ENSG00000165949",
          "biotype": "protein_coding",
          "start": 94104836,
          "end": 94116700,
          "strand": "+",
          "slug": "ifi27"
        },
        {
          "symbol": "IFI27L2",
          "ensemblId": "ENSG00000119632",
          "biotype": "protein_coding",
          "start": 94125580,
          "end": 94130253,
          "strand": "-",
          "slug": "ifi27l2"
        },
        {
          "symbol": "PPP4R4",
          "ensemblId": "ENSG00000119698",
          "biotype": "protein_coding",
          "start": 94146128,
          "end": 94280236,
          "strand": "+",
          "slug": "ppp4r4"
        },
        {
          "symbol": "SERPINA10",
          "ensemblId": "ENSG00000140093",
          "biotype": "protein_coding",
          "start": 94278767,
          "end": 94293320,
          "strand": "-",
          "slug": "serpina10"
        },
        {
          "symbol": "SERPINA6",
          "ensemblId": "ENSG00000170099",
          "biotype": "protein_coding",
          "start": 94304245,
          "end": 94323401,
          "strand": "-",
          "slug": "serpina6"
        },
        {
          "symbol": "SERPINA2",
          "ensemblId": "ENSG00000258597",
          "biotype": "protein_coding",
          "start": 94364316,
          "end": 94366698,
          "strand": "-",
          "slug": "serpina2"
        },
        {
          "symbol": "SERPINA11",
          "ensemblId": "ENSG00000186910",
          "biotype": "protein_coding",
          "start": 94440599,
          "end": 94452828,
          "strand": "-",
          "slug": "serpina11"
        },
        {
          "symbol": "SERPINA9",
          "ensemblId": "ENSG00000170054",
          "biotype": "protein_coding",
          "start": 94462717,
          "end": 94481125,
          "strand": "-",
          "slug": "serpina9"
        },
        {
          "symbol": "SERPINA12",
          "ensemblId": "ENSG00000165953",
          "biotype": "protein_coding",
          "start": 94487274,
          "end": 94517844,
          "strand": "-",
          "slug": "serpina12"
        },
        {
          "symbol": "SERPINA4",
          "ensemblId": "ENSG00000100665",
          "biotype": "protein_coding",
          "start": 94561390,
          "end": 94570995,
          "strand": "+",
          "slug": "serpina4"
        },
        {
          "symbol": "SERPINA5",
          "ensemblId": "ENSG00000188488",
          "biotype": "protein_coding",
          "start": 94561399,
          "end": 94597042,
          "strand": "+",
          "slug": "serpina5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000273259",
          "biotype": "protein_coding",
          "start": 94592058,
          "end": 94624646,
          "strand": "+"
        },
        {
          "symbol": "SERPINA3",
          "ensemblId": "ENSG00000196136",
          "biotype": "protein_coding",
          "start": 94598861,
          "end": 94627000,
          "strand": "+",
          "slug": "serpina3"
        },
        {
          "symbol": "GSC",
          "ensemblId": "ENSG00000133937",
          "biotype": "protein_coding",
          "start": 94766509,
          "end": 94770128,
          "strand": "-",
          "slug": "gsc"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "alpha-1-antitrypsin-deficiency",
        "name": "Alfa-1-antitrypsiinin puutos",
        "diseases": [
          {
            "mondoId": "MONDO:0013282",
            "name": "Alfa 1-antitrypsiinin puutos",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "SERPINA1-geeniin liittyvä häiriö, joka vähentää verenkierrossa olevan alfa-1-antitrypsiinin määrää ja lisää alttiutta keuhkolaajentumalle ja maksasairaudelle.",
            "management": "Laskimonsisäinen alfa-1-proteinaasi-inhibiittorin korvaushoito (Pi*ZZ ja ilmavirtausrajoitus); tupakoinnin lopettaminen; keuhkoille haitallisille altistuksille altistumisen välttäminen; maksansiirto loppuvaiheen maksasairaudessa; geenihoito kliinisissä tutkimuksissa",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 9
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/alpha-1-antitrypsin-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "absent-vas-deferens",
        "name": "Absent vas deferens",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-vas-deferens"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "bronchitis",
        "name": "Bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchitis"
      },
      {
        "slug": "chronic-bronchitis",
        "name": "Chronic bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-bronchitis"
      },
      {
        "slug": "chronic-pulmonary-obstruction",
        "name": "Chronic pulmonary obstruction",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-pulmonary-obstruction"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "cytoplasmic-antineutrophil-antibody-positivity",
        "name": "Cytoplasmic antineutrophil antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cytoplasmic-antineutrophil-antibody-positivity"
      },
      {
        "slug": "decreased-body-mass-index",
        "name": "Decreased body mass index",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-body-mass-index"
      },
      {
        "slug": "decreased-circulating-alpha-1-antitrypsin-concentration",
        "name": "Decreased circulating alpha-1-antitrypsin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-alpha-1-antitrypsin-concentration"
      },
      {
        "slug": "decreased-dlco",
        "name": "Decreased DLCO",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-dlco"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "elevated-sweat-chloride",
        "name": "Elevated sweat chloride",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-sweat-chloride"
      },
      {
        "slug": "emphysema",
        "name": "Emphysema",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emphysema"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "gastric-varix",
        "name": "Gastric varix",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gastric-varix"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "exocrine-pancreatic-insufficiency",
        "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency"
      },
      {
        "slug": "increased-sputum-production",
        "name": "Increased phlegm",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-sputum-production"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "panniculitis",
        "name": "Inflammation of fat tissue",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/panniculitis"
      },
      {
        "slug": "intrahepatic-inclusion-bodies",
        "name": "Intrahepatic inclusion bodies",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrahepatic-inclusion-bodies"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "meconium-ileus",
        "name": "Meconium ileus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meconium-ileus"
      },
      {
        "slug": "nasal-polyposis",
        "name": "Nasal polyposis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nasal-polyposis"
      },
      {
        "slug": "neonatal-unconjugated-hyperbilirubinemia",
        "name": "Neonatal unconjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-unconjugated-hyperbilirubinemia"
      },
      {
        "slug": "nontuberculous-mycobacterial-pulmonary-infection",
        "name": "Nontuberculous mycobacterial pulmonary infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nontuberculous-mycobacterial-pulmonary-infection"
      },
      {
        "slug": "airway-obstruction",
        "name": "Obstructive lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/airway-obstruction"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "panacinar-emphysema",
        "name": "Panacinar emphysema",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/panacinar-emphysema"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "rectal-prolapse",
        "name": "Rectum protrudes through anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rectal-prolapse"
      },
      {
        "slug": "recurrent-aspergillus-infection",
        "name": "Recurrent Aspergillus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-aspergillus-infection"
      },
      {
        "slug": "recurrent-burkholderia-cepacia-infection",
        "name": "Recurrent Burkholderia cepacia infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/recurrent-burkholderia-cepacia-infection"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-haemophilus-influenzae-infection",
        "name": "Recurrent Haemophilus influenzae infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-haemophilus-influenzae-infection"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-staphylococcus-aureus-infection",
        "name": "Recurrent Staphylococcus aureus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-staphylococcus-aureus-infection"
      },
      {
        "slug": "reduced-forced-expiratory-volume-in-one-second",
        "name": "Reduced forced expiratory volume in one second",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-forced-expiratory-volume-in-one-second"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "wheezing",
        "name": "Wheezing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wheezing"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}