{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3074906",
  "communityStandardTitle": [
    "NM_015693.4(INTU):c.826C>T (p.Gln276Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=496108[alleleid]",
        "alleleId": 496108,
        "preferredName": "NM_015693.4(INTU):c.826C>T (p.Gln276Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504483",
        "RCV": [
          "RCV000599227",
          "RCV000755729",
          "RCV002532709"
        ],
        "variationId": 504483
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-128584593-C-T",
        "id": "4-128584593-C-T",
        "variant": "4:128584593 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.128584593C>T?assembly=hg19",
        "id": "chr4:g.128584593C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.127663438C>T?assembly=hg38",
        "id": "chr4:g.127663438C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373900644",
        "rs": 373900644
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-128584593-C-T?dataset=gnomad_r2_1",
        "id": "4-128584593-C-T",
        "variant": "4:128584593 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-127663438-C-T?dataset=gnomad_r3",
        "id": "4-127663438-C-T",
        "variant": "4:127663438 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-127663438-C-T?dataset=gnomad_r4",
        "id": "4-127663438-C-T",
        "variant": "4:127663438 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 127663438,
          "referenceAllele": "C",
          "start": 127663437
        }
      ],
      "hgvs": [
        "NC_000004.12:g.127663438C>T",
        "CM000666.2:g.127663438C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 128584593,
          "referenceAllele": "C",
          "start": 128584592
        }
      ],
      "hgvs": [
        "NC_000004.11:g.128584593C>T",
        "CM000666.1:g.128584593C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 128804043,
          "referenceAllele": "C",
          "start": 128804042
        }
      ],
      "hgvs": [
        "NC_000004.10:g.128804043C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "ENST00000335251.11:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334003.5:p.Gln276Ter",
        "hgvsWellDefined": "ENSP00000334003.5:p.Gln276_Leu942delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335251.11:c.826C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015693.4:c.826C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334003.5:p.Gln276Ter"
          },
          "RefSeq": {
            "hgvs": "NP_056508.2:p.Gln276Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "ENST00000335251.10:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334003.5:p.Gln276Ter",
        "hgvsWellDefined": "ENSP00000334003.5:p.Gln276_Leu942delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "ENST00000503626.5:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426287.1:p.Gln276Ter",
        "hgvsWellDefined": "ENSP00000426287.1:p.Gln276_Asn408delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluIleGluLeuProSerSerAlaHisThrHisGlyGluArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "ENST00000503952.5:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421995.1:p.Gln276Ter",
        "hgvsWellDefined": "ENSP00000421995.1:p.Gln276_Ile435delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerIleMetLysGluPheSerValIleValSerSerGlyLysIleIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658813757",
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "NM_015693.3:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056508.2:p.Gln276Ter",
        "hgvsWellDefined": "NP_056508.2:p.Gln276_Leu942delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "XM_011531844.1:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530146.1:p.Gln276Ter",
        "hgvsWellDefined": "XP_011530146.1:p.Gln276_Leu941delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "XM_011531845.1:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530147.1:p.Gln276Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
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      "hgvs": [
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "referenceAllele": "C",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "XM_011531847.1:c.-255C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530149.1:n.-255C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS098878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
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      "hgvs": [
        "XM_011531849.1:c.826C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011530151.1:p.Gln276_Ser530delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlnGlnAsnLysGluLeuValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011530152.1:p.Gln276_Ser512delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlnGlnAsnLysGluLeuValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011530153.1:p.Gln276_Arg504delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysIleLysLeuGlnIleLysPheIleLeuPheLeuAsnLeuGluCysPheLysGluGluGlnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
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      "hgvs": [
        "XR_938720.1:n.929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
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      "hgvs": [
        "XM_011531844.3:c.826C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011530146.1:p.Gln276_Leu941delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "XM_011531845.3:c.826C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011530147.1:p.Gln276_Leu924delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011530151.1:p.Gln276Ter",
        "hgvsWellDefined": "XP_011530151.1:p.Gln276_Ser530delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlnGlnAsnLysGluLeuValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
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      "hgvs": [
        "XM_011531850.3:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530152.1:p.Gln276Ter",
        "hgvsWellDefined": "XP_011530152.1:p.Gln276_Ser512delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlnGlnAsnLysGluLeuValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "XM_011531851.3:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530153.1:p.Gln276Ter",
        "hgvsWellDefined": "XP_011530153.1:p.Gln276_Arg504delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysIleLysLeuGlnIleLysPheIleLeuPheLeuAsnLeuGluCysPheLysGluGluGlnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "XM_017008026.2:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863515.1:p.Gln276Ter",
        "hgvsWellDefined": "XP_016863515.1:p.Gln276_Val502delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "XR_001741201.1:n.901C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658813757",
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "NM_015693.4:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056508.2:p.Gln276Ter",
        "hgvsWellDefined": "NP_056508.2:p.Gln276_Leu942delinsLysLysThrGlnSerAsnThrSerAspLeuValLysLeuLeuTrpGlyGluGluValGluGlyIleGlnGlnSerGlyLeuAsnThrProHisIleIleMetTyrLeuThrLeuGlnLeuAspSerGluThrSerLysGluGluGlnGluIleLeuTyrHisTyrProMetSerGluAlaSerGlnLysLeuLysSerValArgGlyIlePheLeuThrLeuCysAspMetLeuGluAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335251.11:c.826C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015693.4:c.826C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334003.5:p.Gln276Ter"
          },
          "RefSeq": {
            "hgvs": "NP_056508.2:p.Gln276Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}