{
  "url": "https://dantelabs.com/el/genes/slc34a1",
  "gene": {
    "slug": "slc34a1",
    "symbol": "SLC34A1",
    "name": "solute carrier family 34 member 1",
    "hgnc": "HGNC:11019",
    "summary": null,
    "location": "5q35.3",
    "locusType": "gene with protein product",
    "aliases": [
      "NAPI-3",
      "NPTIIa",
      "SLC11"
    ],
    "previousSymbols": [
      "NPT2",
      "SLC17A2"
    ],
    "ensemblId": "ENSG00000131183",
    "entrezId": 6569,
    "omim": [
      "182309"
    ],
    "uniprot": [
      "Q06495"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
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      "end": 177398848,
      "strand": "+",
      "ensemblTranscript": "ENST00000324417.6",
      "refseqTranscript": "NM_003052.5",
      "ensemblProtein": "ENSP00000321424.4",
      "refseqProtein": "NP_003043.3",
      "exons": [
        {
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        },
        {
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        }
      ],
      "cds": {
        "start": 177385742,
        "end": 177398286
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
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      "end": 176825849,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 177891640,
      "genes": [
        {
          "symbol": "HK3",
          "ensemblId": "ENSG00000160883",
          "biotype": "protein_coding",
          "start": 176880820,
          "end": 176899437,
          "strand": "-",
          "slug": "hk3"
        },
        {
          "symbol": "UIMC1",
          "ensemblId": "ENSG00000087206",
          "biotype": "protein_coding",
          "start": 176902225,
          "end": 177022646,
          "strand": "-",
          "slug": "uimc1"
        },
        {
          "symbol": "ZNF346",
          "ensemblId": "ENSG00000113761",
          "biotype": "protein_coding",
          "start": 177022059,
          "end": 177081202,
          "strand": "+",
          "slug": "znf346"
        },
        {
          "symbol": "FGFR4",
          "ensemblId": "ENSG00000160867",
          "biotype": "protein_coding",
          "start": 177086456,
          "end": 177098156,
          "strand": "+",
          "slug": "fgfr4"
        },
        {
          "symbol": "NSD1",
          "ensemblId": "ENSG00000165671",
          "biotype": "protein_coding",
          "start": 177131787,
          "end": 177300213,
          "strand": "+",
          "slug": "nsd1"
        },
        {
          "symbol": "RAB24",
          "ensemblId": "ENSG00000169228",
          "biotype": "protein_coding",
          "start": 177301198,
          "end": 177303766,
          "strand": "-",
          "slug": "rab24"
        },
        {
          "symbol": "MXD3",
          "ensemblId": "ENSG00000213347",
          "biotype": "protein_coding",
          "start": 177301461,
          "end": 177312757,
          "strand": "-",
          "slug": "mxd3"
        },
        {
          "symbol": "PRELID1",
          "ensemblId": "ENSG00000169230",
          "biotype": "protein_coding",
          "start": 177303787,
          "end": 177306958,
          "strand": "+",
          "slug": "prelid1"
        },
        {
          "symbol": "LMAN2",
          "ensemblId": "ENSG00000169223",
          "biotype": "protein_coding",
          "start": 177315805,
          "end": 177351840,
          "strand": "-",
          "slug": "lman2"
        },
        {
          "symbol": "RGS14",
          "ensemblId": "ENSG00000169220",
          "biotype": "protein_coding",
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          "end": 177374390,
          "strand": "+",
          "slug": "rgs14"
        },
        {
          "symbol": "PFN3",
          "ensemblId": "ENSG00000196570",
          "biotype": "protein_coding",
          "start": 177400109,
          "end": 177400661,
          "strand": "-",
          "slug": "pfn3"
        },
        {
          "symbol": "F12",
          "ensemblId": "ENSG00000131187",
          "biotype": "protein_coding",
          "start": 177402133,
          "end": 177416583,
          "strand": "-",
          "slug": "f12"
        },
        {
          "symbol": "GRK6",
          "ensemblId": "ENSG00000198055",
          "biotype": "protein_coding",
          "start": 177403204,
          "end": 177442901,
          "strand": "+",
          "slug": "grk6"
        },
        {
          "symbol": "PRR7",
          "ensemblId": "ENSG00000131188",
          "biotype": "protein_coding",
          "start": 177446445,
          "end": 177456291,
          "strand": "+",
          "slug": "prr7"
        },
        {
          "symbol": "DBN1",
          "ensemblId": "ENSG00000113758",
          "biotype": "protein_coding",
          "start": 177456225,
          "end": 177474401,
          "strand": "-",
          "slug": "dbn1"
        },
        {
          "symbol": "PDLIM7",
          "ensemblId": "ENSG00000196923",
          "biotype": "protein_coding",
          "start": 177482838,
          "end": 177497664,
          "strand": "-",
          "slug": "pdlim7"
        },
        {
          "symbol": "DOK3",
          "ensemblId": "ENSG00000146094",
          "biotype": "protein_coding",
          "start": 177501888,
          "end": 177511274,
          "strand": "-",
          "slug": "dok3"
        },
        {
          "symbol": "DDX41",
          "ensemblId": "ENSG00000183258",
          "biotype": "protein_coding",
          "start": 177511569,
          "end": 177516979,
          "strand": "-",
          "slug": "ddx41"
        },
        {
          "symbol": "FAM193B",
          "ensemblId": "ENSG00000146067",
          "biotype": "protein_coding",
          "start": 177519788,
          "end": 177554601,
          "strand": "-",
          "slug": "fam193b"
        },
        {
          "symbol": "TMED9",
          "ensemblId": "ENSG00000184840",
          "biotype": "protein_coding",
          "start": 177592174,
          "end": 177597242,
          "strand": "+",
          "slug": "tmed9"
        },
        {
          "symbol": "B4GALT7",
          "ensemblId": "ENSG00000027847",
          "biotype": "protein_coding",
          "start": 177600081,
          "end": 177611056,
          "strand": "+",
          "slug": "b4galt7"
        },
        {
          "symbol": "FAM153A",
          "ensemblId": "ENSG00000170074",
          "biotype": "protein_coding",
          "start": 177707981,
          "end": 177784435,
          "strand": "-",
          "slug": "fam153a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hypercalcemia-infantile",
        "name": "Υπερασβεστιαιμία βρεφικής ηλικίας",
        "diseases": [
          {
            "mondoId": "MONDO:0000212",
            "name": "Υπερασβεστιαιμία, βρεφική",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Νόσος υπερασβεστιαιμίας που εμφανίζεται από την ηλικία των 28 ημερών έως και το ένα έτος ζωής.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hypercalcemia-infantile"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-urine-ph",
        "name": "Abnormal urine pH",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-urine-ph"
      },
      {
        "slug": "abnormality-of-the-skeletal-system",
        "name": "Abnormality of the skeletal system",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system"
      },
      {
        "slug": "bicarbonate-wasting-renal-tubular-acidosis",
        "name": "Bicarbonate-wasting renal tubular acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bicarbonate-wasting-renal-tubular-acidosis"
      },
      {
        "slug": "bicarbonaturia",
        "name": "Bicarbonaturia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bicarbonaturia"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "decreased-circulating-carnitine-concentration",
        "name": "Carnitine deficiency",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "decreased-circulating-parathyroid-hormone-level",
        "name": "Decreased circulating parathyroid hormone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-parathyroid-hormone-level"
      },
      {
        "slug": "decreased-glomerular-filtration-rate",
        "name": "Decreased glomerular filtration rate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "elevated-alkaline-phosphatase-of-bone-origin",
        "name": "Elevated alkaline phosphatase of bone origin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-alkaline-phosphatase-of-bone-origin"
      },
      {
        "slug": "elevated-circulating-beta-ctx-concentration",
        "name": "Elevated circulating beta-CTX concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-beta-ctx-concentration"
      },
      {
        "slug": "elevated-circulating-calcitriol-concentration",
        "name": "Elevated circulating calcitriol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-calcitriol-concentration"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "generalized-aminoaciduria",
        "name": "Generalized aminoaciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-aminoaciduria"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "hyperphosphaturia",
        "name": "High urine phosphate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperphosphaturia"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hyperuricosuria",
        "name": "High urine uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperuricosuria"
      },
      {
        "slug": "hyperchloremic-metabolic-acidosis",
        "name": "Hyperchloremic metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperchloremic-metabolic-acidosis"
      },
      {
        "slug": "hypophosphatemic-rickets",
        "name": "Hypophosphatemic rickets",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypophosphatemic-rickets"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "increased-circulating-osteocalcin-level",
        "name": "Increased circulating osteocalcin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-osteocalcin-level"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "increased-urinary-potassium",
        "name": "Increased urinary potassium",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-urinary-potassium"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "hypophosphatemia",
        "name": "Low blood phosphate level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypophosphatemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypouricemia",
        "name": "Low blood uric acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypouricemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "low-molecular-weight-proteinuria",
        "name": "Low-molecular-weight proteinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/low-molecular-weight-proteinuria"
      },
      {
        "slug": "medullary-nephrocalcinosis",
        "name": "Medullary nephrocalcinosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/medullary-nephrocalcinosis"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "proximal-renal-tubular-acidosis",
        "name": "Proximal renal tubular acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-renal-tubular-acidosis"
      },
      {
        "slug": "proximal-tubulopathy",
        "name": "Proximal tubulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-tubulopathy"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "rachitic-rosary",
        "name": "Rachitic rosary",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rachitic-rosary"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "renal-phosphate-wasting",
        "name": "Renal phosphate wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-phosphate-wasting"
      },
      {
        "slug": "renal-sodium-wasting",
        "name": "Renal sodium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-sodium-wasting"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "osteomalacia",
        "name": "Softening of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteomalacia"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rickets"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "cyp24a1",
        "symbol": "CYP24A1",
        "name": "cytochrome P450 family 24 subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cyp24a1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}