{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007295",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67724[alleleid]",
        "alleleId": 67724,
        "preferredName": "NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53056",
        "RCV": [
          "RCV000046070",
          "RCV002490607",
          "RCV004018949"
        ],
        "variationId": 53056
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-2591893-C-G",
        "id": "11-2591893-C-G",
        "variant": "11:2591893 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2591893C>G?assembly=hg19",
        "id": "chr11:g.2591893C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2570663C>G?assembly=hg38",
        "id": "chr11:g.2570663C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139042529",
        "rs": 139042529
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2591893-C-G?dataset=gnomad_r2_1",
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        "variant": "11:2591893 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2570663-C-G?dataset=gnomad_r3",
        "id": "11-2570663-C-G",
        "variant": "11:2570663 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2570663-C-G?dataset=gnomad_r4",
        "id": "11-2570663-C-G",
        "variant": "11:2570663 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 2570663,
          "referenceAllele": "C",
          "start": 2570662
        }
      ],
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        "CM000673.2:g.2570663C>G"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 2591893,
          "referenceAllele": "C",
          "start": 2591892
        }
      ],
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        "CM000673.1:g.2591893C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 2548469,
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          "start": 2548468
        }
      ],
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
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          "end": 130673,
          "referenceAllele": "C",
          "start": 130672
        }
      ],
      "hgvs": [
        "NG_008935.1:g.130673C>G",
        "LRG_287:g.130673C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284,
          "referenceAllele": "C",
          "start": 283
        }
      ],
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      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 568,
          "endIntronDirection": "-",
          "endIntronOffset": 12771,
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          "start": 568,
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          "startIntronOffset": 12772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
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      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 603
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      ],
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      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.513C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000155840.2:p.Tyr171_Ser676delinsValValArgLeuTrpSerAlaGlyCysArgSerLysTyrValGlyLeuTrpGlyArgLeuArgPheAlaArgLysProIleSerIleIleAspLeuIleValValValAlaSerMetValValLeuCysValGlySerLysGlyGlnValPheAlaThrSerAlaIleArgGlyIleArgPheLeuGlnIleLeuArgMetLeuHisValAspArgGlnGlyGlyThrTrpArgLeuLeuGlySerValValPheIleHisArgGlnGluLeuIleThrThrLeuTyrIleGlyPheLeuGlyLeuIlePheSerSerTyrPheValTyrLeuAlaGluLysAspAlaValAsnGluSerGlyArgValGluPheGlySerTyrAlaAspAlaLeuTrpTrpGlyValValThrValThrThrIleGlyTyrGlyAspLysValProGlnThrTrpValGlyLysThrIleAlaSerCysPheSerValPheAlaIleSerPhePheAlaLeuProAlaGlyIleLeuGlySerGlyPheAlaLeuLysValGlnGlnLysGlnArgGlnLysHisPheAsnArgGlnIleProAlaAlaAlaSerLeuIleGlnThrAlaTrpArgCysTyrAlaAlaGluAsnProAspSerSerThrTrpLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.513C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.513C>G"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000155840.2:p.Tyr171Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Tyr171Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000334497.5:p.Tyr44_Ser549delinsValValArgLeuTrpSerAlaGlyCysArgSerLysTyrValGlyLeuTrpGlyArgLeuArgPheAlaArgLysProIleSerIleIleAspLeuIleValValValAlaSerMetValValLeuCysValGlySerLysGlyGlnValPheAlaThrSerAlaIleArgGlyIleArgPheLeuGlnIleLeuArgMetLeuHisValAspArgGlnGlyGlyThrTrpArgLeuLeuGlySerValValPheIleHisArgGlnGluLeuIleThrThrLeuTyrIleGlyPheLeuGlyLeuIlePheSerSerTyrPheValTyrLeuAlaGluLysAspAlaValAsnGluSerGlyArgValGluPheGlySerTyrAlaAspAlaLeuTrpTrpGlyValValThrValThrThrIleGlyTyrGlyAspLysValProGlnThrTrpValGlyLysThrIleAlaSerCysPheSerValPheAlaIleSerPhePheAlaLeuProAlaGlyIleLeuGlySerGlyPheAlaLeuLysValGlnGlnLysGlnArgGlnLysHisPheAsnArgGlnIleProAlaAlaAlaSerLeuIleGlnThrAlaTrpArgCysTyrAlaAlaGluAsnProAspSerSerThrTrpLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 12771,
          "referenceAllele": "C",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 12772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 620
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000155840.2:p.Tyr171_Ser676delinsValValArgLeuTrpSerAlaGlyCysArgSerLysTyrValGlyLeuTrpGlyArgLeuArgPheAlaArgLysProIleSerIleIleAspLeuIleValValValAlaSerMetValValLeuCysValGlySerLysGlyGlnValPheAlaThrSerAlaIleArgGlyIleArgPheLeuGlnIleLeuArgMetLeuHisValAspArgGlnGlyGlyThrTrpArgLeuLeuGlySerValValPheIleHisArgGlnGluLeuIleThrThrLeuTyrIleGlyPheLeuGlyLeuIlePheSerSerTyrPheValTyrLeuAlaGluLysAspAlaValAsnGluSerGlyArgValGluPheGlySerTyrAlaAspAlaLeuTrpTrpGlyValValThrValThrThrIleGlyTyrGlyAspLysValProGlnThrTrpValGlyLysThrIleAlaSerCysPheSerValPheAlaIleSerPhePheAlaLeuProAlaGlyIleLeuGlySerGlyPheAlaLeuLysValGlnGlnLysGlnArgGlnLysHisPheAsnArgGlnIleProAlaAlaAlaSerLeuIleGlnThrAlaTrpArgCysTyrAlaAlaGluAsnProAspSerSerThrTrpLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000334497.5:p.Tyr44_Ser549delinsValValArgLeuTrpSerAlaGlyCysArgSerLysTyrValGlyLeuTrpGlyArgLeuArgPheAlaArgLysProIleSerIleIleAspLeuIleValValValAlaSerMetValValLeuCysValGlySerLysGlyGlnValPheAlaThrSerAlaIleArgGlyIleArgPheLeuGlnIleLeuArgMetLeuHisValAspArgGlnGlyGlyThrTrpArgLeuLeuGlySerValValPheIleHisArgGlnGluLeuIleThrThrLeuTyrIleGlyPheLeuGlyLeuIlePheSerSerTyrPheValTyrLeuAlaGluLysAspAlaValAsnGluSerGlyArgValGluPheGlySerTyrAlaAspAlaLeuTrpTrpGlyValValThrValThrThrIleGlyTyrGlyAspLysValProGlnThrTrpValGlyLysThrIleAlaSerCysPheSerValPheAlaIleSerPhePheAlaLeuProAlaGlyIleLeuGlySerGlyPheAlaLeuLysValGlnGlnLysGlnArgGlnLysHisPheAsnArgGlnIleProAlaAlaAlaSerLeuIleGlnThrAlaTrpArgCysTyrAlaAlaGluAsnProAspSerSerThrTrpLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "referenceAllele": "C",
          "start": 253
        }
      ],
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      "geneSymbol": "KCNQ1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000434560.1:p.Tyr84Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA326189",
      "coordinates": [
        {
          "allele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN006294",
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      "geneSymbol": "KCNQ1",
      "hgvs": [
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        "LRG_287t1:c.513C>G"
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      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Tyr171Ter",
        "hgvsWellDefined": "NP_000209.2:p.Tyr171_Ser676delinsValValArgLeuTrpSerAlaGlyCysArgSerLysTyrValGlyLeuTrpGlyArgLeuArgPheAlaArgLysProIleSerIleIleAspLeuIleValValValAlaSerMetValValLeuCysValGlySerLysGlyGlnValPheAlaThrSerAlaIleArgGlyIleArgPheLeuGlnIleLeuArgMetLeuHisValAspArgGlnGlyGlyThrTrpArgLeuLeuGlySerValValPheIleHisArgGlnGluLeuIleThrThrLeuTyrIleGlyPheLeuGlyLeuIlePheSerSerTyrPheValTyrLeuAlaGluLysAspAlaValAsnGluSerGlyArgValGluPheGlySerTyrAlaAspAlaLeuTrpTrpGlyValValThrValThrThrIleGlyTyrGlyAspLysValProGlnThrTrpValGlyLysThrIleAlaSerCysPheSerValPheAlaIleSerPhePheAlaLeuProAlaGlyIleLeuGlySerGlyPheAlaLeuLysValGlnGlnLysGlnArgGlnLysHisPheAsnArgGlnIleProAlaAlaAlaSerLeuIleGlnThrAlaTrpArgCysTyrAlaAlaGluAsnProAspSerSerThrTrpLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA326190",
      "coordinates": [
        {
          "allele": "G",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.132C>G",
        "LRG_287t2:c.132C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Tyr44Ter",
        "hgvsWellDefined": "NP_861463.1:p.Tyr44_Ser549delinsValValArgLeuTrpSerAlaGlyCysArgSerLysTyrValGlyLeuTrpGlyArgLeuArgPheAlaArgLysProIleSerIleIleAspLeuIleValValValAlaSerMetValValLeuCysValGlySerLysGlyGlnValPheAlaThrSerAlaIleArgGlyIleArgPheLeuGlnIleLeuArgMetLeuHisValAspArgGlnGlyGlyThrTrpArgLeuLeuGlySerValValPheIleHisArgGlnGluLeuIleThrThrLeuTyrIleGlyPheLeuGlyLeuIlePheSerSerTyrPheValTyrLeuAlaGluLysAspAlaValAsnGluSerGlyArgValGluPheGlySerTyrAlaAspAlaLeuTrpTrpGlyValValThrValThrThrIleGlyTyrGlyAspLysValProGlnThrTrpValGlyLysThrIleAlaSerCysPheSerValPheAlaIleSerPhePheAlaLeuProAlaGlyIleLeuGlySerGlyPheAlaLeuLysValGlnGlnLysGlnArgGlnLysHisPheAsnArgGlnIleProAlaAlaAlaSerLeuIleGlnThrAlaTrpArgCysTyrAlaAlaGluAsnProAspSerSerThrTrpLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA326189",
      "coordinates": [
        {
          "allele": "G",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Tyr171Ter",
        "hgvsWellDefined": "NP_000209.2:p.Tyr171_Ser676delinsValValArgLeuTrpSerAlaGlyCysArgSerLysTyrValGlyLeuTrpGlyArgLeuArgPheAlaArgLysProIleSerIleIleAspLeuIleValValValAlaSerMetValValLeuCysValGlySerLysGlyGlnValPheAlaThrSerAlaIleArgGlyIleArgPheLeuGlnIleLeuArgMetLeuHisValAspArgGlnGlyGlyThrTrpArgLeuLeuGlySerValValPheIleHisArgGlnGluLeuIleThrThrLeuTyrIleGlyPheLeuGlyLeuIlePheSerSerTyrPheValTyrLeuAlaGluLysAspAlaValAsnGluSerGlyArgValGluPheGlySerTyrAlaAspAlaLeuTrpTrpGlyValValThrValThrThrIleGlyTyrGlyAspLysValProGlnThrTrpValGlyLysThrIleAlaSerCysPheSerValPheAlaIleSerPhePheAlaLeuProAlaGlyIleLeuGlySerGlyPheAlaLeuLysValGlnGlnLysGlnArgGlnLysHisPheAsnArgGlnIleProAlaAlaAlaSerLeuIleGlnThrAlaTrpArgCysTyrAlaAlaGluAsnProAspSerSerThrTrpLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.513C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.513C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Tyr171Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Tyr171Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}