{
  "url": "https://dantelabs.com/fr/genes/mag",
  "gene": {
    "slug": "mag",
    "symbol": "MAG",
    "name": "myelin associated glycoprotein",
    "hgnc": "HGNC:6783",
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    "location": "19q13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "SIGLEC4A",
      "SIGLEC-4A",
      "S-MAG",
      "SIGLEC4"
    ],
    "previousSymbols": [
      "GMA"
    ],
    "ensemblId": "ENSG00000105695",
    "entrezId": 4099,
    "omim": [
      "159460"
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    "uniprot": [
      "P20916"
    ],
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      "release": "v1.5",
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      "ensemblTranscript": "ENST00000392213.8",
      "refseqTranscript": "NM_002361.4",
      "ensemblProtein": "ENSP00000376048.2",
      "refseqProtein": "NP_002352.1",
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        {
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      ],
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        "start": 35295409,
        "end": 35313454
      }
    },
    "grch37": {
      "build": "GRCh37",
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      "end": 35804707,
      "strand": "+"
    },
    "neighbourhood": {
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          "symbol": "ZNF30",
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        {
          "symbol": "ZNF792",
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        {
          "symbol": "GRAMD1A",
          "ensemblId": "ENSG00000089351",
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        {
          "symbol": "SCN1B",
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        {
          "symbol": "HPN",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000285526",
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        {
          "symbol": "FXYD3",
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        {
          "symbol": "LGI4",
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        {
          "symbol": "FXYD1",
          "ensemblId": "ENSG00000266964",
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        {
          "symbol": "FXYD7",
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          "symbol": "FXYD5",
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        {
          "symbol": "FAM187B",
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        {
          "symbol": "LSR",
          "ensemblId": "ENSG00000105699",
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        {
          "symbol": "USF2",
          "ensemblId": "ENSG00000105698",
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        {
          "symbol": "HAMP",
          "ensemblId": "ENSG00000105697",
          "biotype": "protein_coding",
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        {
          "symbol": "CD22",
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        {
          "symbol": "FFAR1",
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        {
          "symbol": "FFAR3",
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        {
          "symbol": "GPR42",
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        {
          "symbol": "FFAR2",
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        {
          "symbol": "KRTDAP",
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        {
          "symbol": "DMKN",
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        {
          "symbol": "SBSN",
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          "strand": "-",
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        },
        {
          "symbol": "GAPDHS",
          "ensemblId": "ENSG00000105679",
          "biotype": "protein_coding",
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        {
          "symbol": "TMEM147",
          "ensemblId": "ENSG00000105677",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "tmem147"
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        {
          "symbol": "ATP4A",
          "ensemblId": "ENSG00000105675",
          "biotype": "protein_coding",
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        {
          "symbol": "PMIS2",
          "ensemblId": "ENSG00000283758",
          "biotype": "protein_coding",
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          "end": 35587296,
          "strand": "+",
          "slug": "pmis2"
        },
        {
          "symbol": "HAUS5",
          "ensemblId": "ENSG00000249115",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "haus5"
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        {
          "symbol": "RBM42",
          "ensemblId": "ENSG00000126254",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "ETV2",
          "ensemblId": "ENSG00000105672",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "etv2"
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        {
          "symbol": "COX6B1",
          "ensemblId": "ENSG00000126267",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cox6b1"
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        {
          "symbol": "UPK1A",
          "ensemblId": "ENSG00000105668",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "ZBTB32",
          "ensemblId": "ENSG00000011590",
          "biotype": "protein_coding",
          "start": 35704558,
          "end": 35717048,
          "strand": "+",
          "slug": "zbtb32"
        },
        {
          "symbol": "KMT2B",
          "ensemblId": "ENSG00000272333",
          "biotype": "protein_coding",
          "start": 35717973,
          "end": 35738880,
          "strand": "+",
          "slug": "kmt2b"
        },
        {
          "symbol": "IGFLR1",
          "ensemblId": "ENSG00000126246",
          "biotype": "protein_coding",
          "start": 35738798,
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          "strand": "-",
          "slug": "igflr1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267120",
          "biotype": "protein_coding",
          "start": 35739252,
          "end": 35745432,
          "strand": "-"
        },
        {
          "symbol": "U2AF1L4",
          "ensemblId": "ENSG00000161265",
          "biotype": "protein_coding",
          "start": 35742464,
          "end": 35745460,
          "strand": "-",
          "slug": "u2af1l4"
        },
        {
          "symbol": "PSENEN",
          "ensemblId": "ENSG00000205155",
          "biotype": "protein_coding",
          "start": 35745070,
          "end": 35747519,
          "strand": "+",
          "slug": "psenen"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000188223",
          "biotype": "protein_coding",
          "start": 35745678,
          "end": 35754519,
          "strand": "+"
        },
        {
          "symbol": "LIN37",
          "ensemblId": "ENSG00000267796",
          "biotype": "protein_coding",
          "start": 35748361,
          "end": 35754519,
          "strand": "+",
          "slug": "lin37"
        },
        {
          "symbol": "HSPB6",
          "ensemblId": "ENSG00000004776",
          "biotype": "protein_coding",
          "start": 35754566,
          "end": 35758079,
          "strand": "-",
          "slug": "hspb6"
        },
        {
          "symbol": "PROSER3",
          "ensemblId": "ENSG00000167595",
          "biotype": "protein_coding",
          "start": 35758143,
          "end": 35771398,
          "strand": "+",
          "slug": "proser3"
        },
        {
          "symbol": "ARHGAP33",
          "ensemblId": "ENSG00000004777",
          "biotype": "protein_coding",
          "start": 35774532,
          "end": 35788822,
          "strand": "+",
          "slug": "arhgap33"
        },
        {
          "symbol": "PRODH2",
          "ensemblId": "ENSG00000250799",
          "biotype": "protein_coding",
          "start": 35799975,
          "end": 35813299,
          "strand": "-",
          "slug": "prodh2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Paraplégie spastique héréditaire",
        "diseases": [
          {
            "mondoId": "MONDO:0014729",
            "name": "Paraplégie spastique héréditaire de type 75",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Toute paraplégie spastique héréditaire dont la cause est une mutation du gène MAG.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019064",
            "name": "Paraplégie spastique héréditaire (tous types)",
            "genes": 66,
            "inheritance": null,
            "description": "Terme général regroupant toutes les paraplégies spastiques héréditaires, y compris SPG4 (SPAST), la forme dominante la plus fréquente, ainsi que SPG5A, SPG6, SPG10, SPG18, SPG30 et SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hereditary-spastic-paraplegia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "areflexia-of-lower-limbs",
        "name": "Areflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "corpus-callosum-atrophy",
        "name": "Corpus callosum atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/corpus-callosum-atrophy"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyporeflexia-of-lower-limbs",
        "name": "Hyporeflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia-of-lower-limbs"
      },
      {
        "slug": "impaired-distal-vibration-sensation",
        "name": "Impaired distal vibration sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation"
      },
      {
        "slug": "impaired-vibratory-sensation",
        "name": "Impaired vibratory sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-vibratory-sensation"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "spastic-dysarthria",
        "name": "Spastic dysarthria",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-dysarthria"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "temporal-optic-disc-pallor",
        "name": "Temporal optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/temporal-optic-disc-pallor"
      },
      {
        "slug": "titubation",
        "name": "Titubation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/titubation"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/abhd16a"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap5z1"
      },
      {
        "slug": "arl6ip1",
        "symbol": "ARL6IP1",
        "name": "ARL6 interacting reticulophagy regulator 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arl6ip1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atl1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp13a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}