{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5158513",
  "communityStandardTitle": [
    "NM_014425.5(INVS):c.1943A>G (p.Asn648Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=396782[alleleid]",
        "alleleId": 396782,
        "preferredName": "NM_014425.5(INVS):c.1943A>G (p.Asn648Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411193",
        "RCV": [
          "RCV000595240",
          "RCV001088024",
          "RCV001166927"
        ],
        "variationId": 411193
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-103046760-A-G",
        "id": "9-103046760-A-G",
        "variant": "9:103046760 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.103046760A>G?assembly=hg19",
        "id": "chr9:g.103046760A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.100284478A>G?assembly=hg38",
        "id": "chr9:g.100284478A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116686341",
        "rs": 116686341
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-103046760-A-G?dataset=gnomad_r2_1",
        "id": "9-103046760-A-G",
        "variant": "9:103046760 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-100284478-A-G?dataset=gnomad_r3",
        "id": "9-100284478-A-G",
        "variant": "9:100284478 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-100284478-A-G?dataset=gnomad_r4",
        "id": "9-100284478-A-G",
        "variant": "9:100284478 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 100284478,
          "referenceAllele": "A",
          "start": 100284477
        }
      ],
      "hgvs": [
        "NC_000009.12:g.100284478A>G",
        "CM000671.2:g.100284478A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 103046760,
          "referenceAllele": "A",
          "start": 103046759
        }
      ],
      "hgvs": [
        "NC_000009.11:g.103046760A>G",
        "CM000671.1:g.103046760A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 102086581,
          "referenceAllele": "A",
          "start": 102086580
        }
      ],
      "hgvs": [
        "NC_000009.10:g.102086581A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 190250,
          "referenceAllele": "A",
          "start": 190249
        }
      ],
      "hgvs": [
        "NG_008316.1:g.190250A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001023"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2141,
          "referenceAllele": "A",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "ENST00000262457.7:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262457.2:p.Asn648Ser",
        "hgvsWellDefined": "ENSP00000262457.2:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262457.7:c.1943A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014425.5:c.1943A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262457.2:p.Asn648Ser"
          },
          "RefSeq": {
            "hgvs": "NP_055240.2:p.Asn648Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "ENST00000262456.6:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262456.2:p.Asn648Ser",
        "hgvsWellDefined": "ENSP00000262456.2:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2128,
          "referenceAllele": "A",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "ENST00000262457.6:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262457.2:p.Asn648Ser",
        "hgvsWellDefined": "ENSP00000262457.2:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469883",
      "coordinates": [
        {
          "allele": "G",
          "end": 2164,
          "referenceAllele": "A",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.3:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Asn648Ser",
        "hgvsWellDefined": "NP_055240.2:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2164,
          "referenceAllele": "A",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_183245.2:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_899068.1:p.Asn648Ser",
        "hgvsWellDefined": "NP_899068.1:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2252,
          "referenceAllele": "A",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_051962.1:n.2252A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "A",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_005251923.3:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251980.1:p.Asn648Ser",
        "hgvsWellDefined": "XP_005251980.1:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2234,
          "referenceAllele": "A",
          "start": 2233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_005251924.3:c.1655A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251981.1:p.Asn552Ser",
        "hgvsWellDefined": "XP_005251981.1:p.Asn552Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "A",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518531.1:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516833.1:p.Asn648Ser",
        "hgvsWellDefined": "XP_011516833.1:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2273,
          "referenceAllele": "A",
          "start": 2272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518532.1:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516834.1:p.Asn648Ser",
        "hgvsWellDefined": "XP_011516834.1:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "A",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518533.1:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516835.1:p.Asn648Ser",
        "hgvsWellDefined": "XP_011516835.1:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2365,
          "referenceAllele": "A",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518534.1:c.1655A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516836.1:p.Asn552Ser",
        "hgvsWellDefined": "XP_011516836.1:p.Asn552Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085708"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2249,
          "referenceAllele": "A",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518535.1:c.1655A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516837.1:p.Asn552Ser",
        "hgvsWellDefined": "XP_011516837.1:p.Asn552Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2320,
          "referenceAllele": "A",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518536.1:c.1655A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516838.1:p.Asn552Ser",
        "hgvsWellDefined": "XP_011516838.1:p.Asn552Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518537.1:c.1655A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516839.1:p.Asn552Ser",
        "hgvsWellDefined": "XP_011516839.1:p.Asn552Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "A",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518538.1:c.1655A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516840.1:p.Asn552Ser",
        "hgvsWellDefined": "XP_011516840.1:p.Asn552Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085712"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2196,
          "referenceAllele": "A",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518539.1:c.1622A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516841.1:p.Asn541Ser",
        "hgvsWellDefined": "XP_011516841.1:p.Asn541Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518540.1:c.1622A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516842.1:p.Asn541Ser",
        "hgvsWellDefined": "XP_011516842.1:p.Asn541Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1704,
          "referenceAllele": "A",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518541.1:c.1622A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516843.1:p.Asn541Ser",
        "hgvsWellDefined": "XP_011516843.1:p.Asn541Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085715"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2430,
          "referenceAllele": "A",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518542.1:c.1655A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516844.1:p.Asn552Ser",
        "hgvsWellDefined": "XP_011516844.1:p.Asn552Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2103,
          "referenceAllele": "A",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518543.1:c.965A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516845.1:p.Asn322Ser",
        "hgvsWellDefined": "XP_011516845.1:p.Asn322Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1245,
          "referenceAllele": "A",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518544.1:c.965A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516846.1:p.Asn322Ser",
        "hgvsWellDefined": "XP_011516846.1:p.Asn322Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "A",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_242585.1:n.2199A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "A",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_242586.1:n.2199A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "A",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_428522.1:n.2199A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989952",
      "coordinates": [
        {
          "allele": "G",
          "end": 2287,
          "referenceAllele": "A",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318381.1:c.1655A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305310.1:p.Asn552Ser",
        "hgvsWellDefined": "NP_001305310.1:p.Asn552Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990399",
      "coordinates": [
        {
          "allele": "G",
          "end": 2210,
          "referenceAllele": "A",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318382.1:c.965A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305311.1:p.Asn322Ser",
        "hgvsWellDefined": "NP_001305311.1:p.Asn322Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469883",
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "A",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.4:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Asn648Ser",
        "hgvsWellDefined": "NP_055240.2:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "A",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_134606.1:n.2199A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469883",
      "coordinates": [
        {
          "allele": "G",
          "end": 2141,
          "referenceAllele": "A",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.5:c.1943A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Asn648Ser",
        "hgvsWellDefined": "NP_055240.2:p.Asn648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262457.7:c.1943A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014425.5:c.1943A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262457.2:p.Asn648Ser"
          },
          "RefSeq": {
            "hgvs": "NP_055240.2:p.Asn648Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989952",
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "A",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318381.2:c.1655A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305310.1:p.Asn552Ser",
        "hgvsWellDefined": "NP_001305310.1:p.Asn552Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990399",
      "coordinates": [
        {
          "allele": "G",
          "end": 2152,
          "referenceAllele": "A",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318382.2:c.965A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305311.1:p.Asn322Ser",
        "hgvsWellDefined": "NP_001305311.1:p.Asn322Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2141,
          "referenceAllele": "A",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_134606.2:n.2141A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730878"
    }
  ],
  "type": "nucleotide"
}