{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121811",
  "communityStandardTitle": [
    "NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1103242",
        "active": true,
        "id": "COSM1103242"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27000[alleleid]",
        "alleleId": 27000,
        "preferredName": "NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11961",
        "RCV": [
          "RCV000012739",
          "RCV001851809"
        ],
        "variationId": 11961
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-103055258-C-T",
        "id": "9-103055258-C-T",
        "variant": "9:103055258 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.103055258C>T?assembly=hg19",
        "id": "chr9:g.103055258C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.100292976C>T?assembly=hg38",
        "id": "chr9:g.100292976C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607185",
        "rs": 267607185
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-103055258-C-T?dataset=gnomad_r2_1",
        "id": "9-103055258-C-T",
        "variant": "9:103055258 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-100292976-C-T?dataset=gnomad_r3",
        "id": "9-100292976-C-T",
        "variant": "9:100292976 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-100292976-C-T?dataset=gnomad_r4",
        "id": "9-100292976-C-T",
        "variant": "9:100292976 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 100292976,
          "referenceAllele": "C",
          "start": 100292975
        }
      ],
      "hgvs": [
        "NC_000009.12:g.100292976C>T",
        "CM000671.2:g.100292976C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 103055258,
          "referenceAllele": "C",
          "start": 103055257
        }
      ],
      "hgvs": [
        "NC_000009.11:g.103055258C>T",
        "CM000671.1:g.103055258C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 102095079,
          "referenceAllele": "C",
          "start": 102095078
        }
      ],
      "hgvs": [
        "NC_000009.10:g.102095079C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198748,
          "referenceAllele": "C",
          "start": 198747
        }
      ],
      "hgvs": [
        "NG_008316.1:g.198748C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001023"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2917,
          "referenceAllele": "C",
          "start": 2916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "ENST00000262457.7:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262457.2:p.Arg907Ter",
        "hgvsWellDefined": "ENSP00000262457.2:p.Arg909_Pro1065delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262457.7:c.2719C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014425.5:c.2719C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262457.2:p.Arg907Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055240.2:p.Arg907Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "ENST00000262456.6:c.2209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262456.2:p.Arg737Ter",
        "hgvsWellDefined": "ENSP00000262456.2:p.Arg739_Pro895delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2904,
          "referenceAllele": "C",
          "start": 2903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "ENST00000262457.6:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262457.2:p.Arg907Ter",
        "hgvsWellDefined": "ENSP00000262457.2:p.Arg909_Pro1065delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121812",
      "coordinates": [
        {
          "allele": "T",
          "end": 2940,
          "referenceAllele": "C",
          "start": 2939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.3:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Arg907Ter",
        "hgvsWellDefined": "NP_055240.2:p.Arg909_Pro1065delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2430,
          "referenceAllele": "C",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_183245.2:c.2209C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_899068.1:p.Arg737Ter",
        "hgvsWellDefined": "NP_899068.1:p.Arg739_Pro895delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3028,
          "referenceAllele": "C",
          "start": 3027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_051962.1:n.3028C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2975,
          "referenceAllele": "C",
          "start": 2974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_005251923.3:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251980.1:p.Arg907Ter",
        "hgvsWellDefined": "XP_005251980.1:p.Arg909_Pro1084delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3010,
          "referenceAllele": "C",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_005251924.3:c.2431C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251981.1:p.Arg811Ter",
        "hgvsWellDefined": "XP_005251981.1:p.Arg813_Pro988delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3286,
          "referenceAllele": "C",
          "start": 3285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518531.1:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516833.1:p.Arg907Ter",
        "hgvsWellDefined": "XP_011516833.1:p.Arg909_Pro1084delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3049,
          "referenceAllele": "C",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518532.1:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516834.1:p.Arg907Ter",
        "hgvsWellDefined": "XP_011516834.1:p.Arg909_Pro1084delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2975,
          "referenceAllele": "C",
          "start": 2974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518533.1:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516835.1:p.Arg907Ter",
        "hgvsWellDefined": "XP_011516835.1:p.Arg909_Pro1033delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3141,
          "referenceAllele": "C",
          "start": 3140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518534.1:c.2431C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516836.1:p.Arg811Ter",
        "hgvsWellDefined": "XP_011516836.1:p.Arg813_Pro988delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3025,
          "referenceAllele": "C",
          "start": 3024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518535.1:c.2431C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516837.1:p.Arg811Ter",
        "hgvsWellDefined": "XP_011516837.1:p.Arg813_Pro988delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3096,
          "referenceAllele": "C",
          "start": 3095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518536.1:c.2431C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516838.1:p.Arg811Ter",
        "hgvsWellDefined": "XP_011516838.1:p.Arg813_Pro988delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2706,
          "referenceAllele": "C",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518537.1:c.2431C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516839.1:p.Arg811Ter",
        "hgvsWellDefined": "XP_011516839.1:p.Arg813_Pro988delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2455,
          "referenceAllele": "C",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518538.1:c.2431C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516840.1:p.Arg811Ter",
        "hgvsWellDefined": "XP_011516840.1:p.Arg813_Pro988delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2972,
          "referenceAllele": "C",
          "start": 2971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518539.1:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516841.1:p.Arg800Ter",
        "hgvsWellDefined": "XP_011516841.1:p.Arg802_Pro958delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2576,
          "referenceAllele": "C",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518540.1:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516842.1:p.Arg800Ter",
        "hgvsWellDefined": "XP_011516842.1:p.Arg802_Pro958delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "C",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518541.1:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516843.1:p.Arg800Ter",
        "hgvsWellDefined": "XP_011516843.1:p.Arg802_Pro958delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2696,
          "referenceAllele": "C",
          "start": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518542.1:c.1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516844.1:p.Arg641Ter",
        "hgvsWellDefined": "XP_011516844.1:p.Arg643_Pro799delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2879,
          "referenceAllele": "C",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518543.1:c.1741C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516845.1:p.Arg581Ter",
        "hgvsWellDefined": "XP_011516845.1:p.Arg583_Pro739delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2021,
          "referenceAllele": "C",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518544.1:c.1741C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516846.1:p.Arg581Ter",
        "hgvsWellDefined": "XP_011516846.1:p.Arg583_Pro739delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2902,
          "referenceAllele": "C",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_242585.1:n.2902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2926,
          "referenceAllele": "C",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_242586.1:n.2926C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_428522.1:n.2416C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990138",
      "coordinates": [
        {
          "allele": "T",
          "end": 3063,
          "referenceAllele": "C",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318381.1:c.2431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305310.1:p.Arg811Ter",
        "hgvsWellDefined": "NP_001305310.1:p.Arg813_Pro969delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990583",
      "coordinates": [
        {
          "allele": "T",
          "end": 2986,
          "referenceAllele": "C",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318382.1:c.1741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305311.1:p.Arg581Ter",
        "hgvsWellDefined": "NP_001305311.1:p.Arg583_Pro739delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121812",
      "coordinates": [
        {
          "allele": "T",
          "end": 2975,
          "referenceAllele": "C",
          "start": 2974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.4:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Arg907Ter",
        "hgvsWellDefined": "NP_055240.2:p.Arg909_Pro1065delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2926,
          "referenceAllele": "C",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_134606.1:n.2926C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121812",
      "coordinates": [
        {
          "allele": "T",
          "end": 2917,
          "referenceAllele": "C",
          "start": 2916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.5:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Arg907Ter",
        "hgvsWellDefined": "NP_055240.2:p.Arg909_Pro1065delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262457.7:c.2719C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014425.5:c.2719C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262457.2:p.Arg907Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055240.2:p.Arg907Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990138",
      "coordinates": [
        {
          "allele": "T",
          "end": 3005,
          "referenceAllele": "C",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318381.2:c.2431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305310.1:p.Arg811Ter",
        "hgvsWellDefined": "NP_001305310.1:p.Arg813_Pro969delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990583",
      "coordinates": [
        {
          "allele": "T",
          "end": 2928,
          "referenceAllele": "C",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318382.2:c.1741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305311.1:p.Arg581Ter",
        "hgvsWellDefined": "NP_001305311.1:p.Arg583_Pro739delinsLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2868,
          "referenceAllele": "C",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_134606.2:n.2868C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730878"
    }
  ],
  "type": "nucleotide"
}