{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374240778",
  "communityStandardTitle": [
    "NM_014425.5(INVS):c.2056A>T (p.Arg686Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=524121[alleleid]",
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        "preferredName": "NM_014425.5(INVS):c.2056A>T (p.Arg686Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/531629",
        "RCV": [
          "RCV000638094"
        ],
        "variationId": 531629
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.103046873A>T?assembly=hg19",
        "id": "chr9:g.103046873A>T"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.100284591A>T?assembly=hg38",
        "id": "chr9:g.100284591A>T"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150001738",
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    ]
  },
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      "chromosome": "9",
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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        "NG_008316.1:g.190363A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001023"
    }
  ],
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        {
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251026"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251027"
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      "@id": "http://reg.genome.network/allele/PA658808928",
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          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033168"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS044253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS052333"
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    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2347,
          "referenceAllele": "A",
          "start": 2346
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      ],
      "gene": "http://reg.genome.network/gene/GN017870",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2623,
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          "start": 2622
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      ],
      "gene": "http://reg.genome.network/gene/GN017870",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011516833.1:p.Arg687_Pro1084delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS085705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "A",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN017870",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011516835.1:p.Arg686Ter",
        "hgvsWellDefined": "XP_011516835.1:p.Arg687_Pro1033delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGluAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2478,
          "referenceAllele": "A",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518534.1:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516836.1:p.Arg590Ter",
        "hgvsWellDefined": "XP_011516836.1:p.Arg591_Pro988delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2362,
          "referenceAllele": "A",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518535.1:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516837.1:p.Arg590Ter",
        "hgvsWellDefined": "XP_011516837.1:p.Arg591_Pro988delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2433,
          "referenceAllele": "A",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518536.1:c.1768A>T"
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      "proteinEffect": {
        "hgvs": "XP_011516838.1:p.Arg590Ter",
        "hgvsWellDefined": "XP_011516838.1:p.Arg591_Pro988delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2043,
          "referenceAllele": "A",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518537.1:c.1768A>T"
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      "proteinEffect": {
        "hgvs": "XP_011516839.1:p.Arg590Ter",
        "hgvsWellDefined": "XP_011516839.1:p.Arg591_Pro988delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1792,
          "referenceAllele": "A",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
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      "hgvs": [
        "XM_011518538.1:c.1768A>T"
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      "proteinEffect": {
        "hgvs": "XP_011516840.1:p.Arg590Ter",
        "hgvsWellDefined": "XP_011516840.1:p.Arg591_Pro988delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerGlyLysAlaAlaThrAlaLysGlnMetValGlyLysAsnMetGlyLysHisPheProLeuPheHisProGlnArgGlnLysThrLeuGluGlnIleTrpProGlyPheSerAsnGlyHisLeuIleSerTrpAspTyrTyrCysSerGlnHisLeuSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2309,
          "referenceAllele": "A",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
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      "hgvs": [
        "XM_011518539.1:c.1735A>T"
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      "proteinEffect": {
        "hgvs": "XP_011516841.1:p.Arg579Ter",
        "hgvsWellDefined": "XP_011516841.1:p.Arg580_Pro958delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518540.1:c.1735A>T"
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      "proteinEffect": {
        "hgvs": "XP_011516842.1:p.Arg579Ter",
        "hgvsWellDefined": "XP_011516842.1:p.Arg580_Pro958delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1817,
          "referenceAllele": "A",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518541.1:c.1735A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516843.1:p.Arg579Ter",
        "hgvsWellDefined": "XP_011516843.1:p.Arg580_Pro958delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2543,
          "referenceAllele": "A",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518542.1:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516844.1:p.Arg590Ter",
        "hgvsWellDefined": "XP_011516844.1:p.Arg591_Pro799delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "referenceAllele": "A",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518543.1:c.1078A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516845.1:p.Arg360Ter",
        "hgvsWellDefined": "XP_011516845.1:p.Arg361_Pro739delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "A",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518544.1:c.1078A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516846.1:p.Arg360Ter",
        "hgvsWellDefined": "XP_011516846.1:p.Arg361_Pro739delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2312,
          "referenceAllele": "A",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_242585.1:n.2312A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2312,
          "referenceAllele": "A",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
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      "hgvs": [
        "XR_242586.1:n.2312A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS116312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2312,
          "referenceAllele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
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        "XR_428522.1:n.2312A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS118090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989984",
      "coordinates": [
        {
          "allele": "T",
          "end": 2400,
          "referenceAllele": "A",
          "start": 2399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
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      "hgvs": [
        "NM_001318381.1:c.1768A>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990431",
      "coordinates": [
        {
          "allele": "T",
          "end": 2323,
          "referenceAllele": "A",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318382.1:c.1078A>T"
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      "proteinEffect": {
        "hgvs": "NP_001305311.1:p.Arg360Ter",
        "hgvsWellDefined": "NP_001305311.1:p.Arg361_Pro739delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658808928",
      "coordinates": [
        {
          "allele": "T",
          "end": 2312,
          "referenceAllele": "A",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.4:c.2056A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Arg686Ter",
        "hgvsWellDefined": "NP_055240.2:p.Arg687_Pro1065delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2312,
          "referenceAllele": "A",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_134606.1:n.2312A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658808928",
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "referenceAllele": "A",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.5:c.2056A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Arg686Ter",
        "hgvsWellDefined": "NP_055240.2:p.Arg687_Pro1065delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262457.7:c.2056A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014425.5:c.2056A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262457.2:p.Arg686Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055240.2:p.Arg686Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989984",
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "referenceAllele": "A",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318381.2:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305310.1:p.Arg590Ter",
        "hgvsWellDefined": "NP_001305310.1:p.Arg591_Pro969delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990431",
      "coordinates": [
        {
          "allele": "T",
          "end": 2265,
          "referenceAllele": "A",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318382.2:c.1078A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305311.1:p.Arg360Ter",
        "hgvsWellDefined": "NP_001305311.1:p.Arg361_Pro739delinsProAsnGluThrAlaArgGluHisSerLysGlyGlnSerAlaCysValHisPheArgProAsnGluGlySerAspGlySerArgHisProGlyValProSerValGluLysSerArgGlyGluThrAlaGlyAspGluArgCysAlaLysGlyLysGlyPheValLysGlnProSerCysIleArgValAlaGlyProAspGluLysGlyGluAspSerArgArgAlaAlaAlaSerLeuProProHisAspSerHisTrpLysProSerArgArgHisAspThrGluProLysAlaLysCysAlaProGlnLysArgArgThrGlnGluLeuArgGlyGlyArgCysSerProAlaGlySerSerArgProGlySerAlaArgGlyGluAlaValHisAlaGlyGlnAsnProProHisHisArgThrProArgAsnLysValThrGlnAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "referenceAllele": "A",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_134606.2:n.2254A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730878"
    }
  ],
  "type": "nucleotide"
}