{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16613564",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=398597[alleleid]",
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        "preferredName": "NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/405268",
        "RCV": [
          "RCV000464076",
          "RCV000786153"
        ],
        "variationId": 405268
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2608846G>A?assembly=hg19",
        "id": "chr11:g.2608846G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2587616G>A?assembly=hg38",
        "id": "chr11:g.2587616G>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500629",
        "rs": 1060500629
      }
    ]
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      "chromosome": "11",
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        "CM000673.2:g.2587616G>A"
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      "referenceGenome": "GRCh38",
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    {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "11",
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        {
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      "referenceGenome": "NCBI36",
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    },
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    }
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  "transcriptAlleles": [
    {
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        {
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        "ENST00000496887.7:c.818G>A"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1175G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Trp392Ter"
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            "hgvs": "NP_000209.2:p.Trp392Ter"
          }
        }
      }
    },
    {
      "coordinates": [
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          "end": 1063,
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      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000334497.5:p.Trp265_Ser549delinsLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
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          "end": 281,
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      ],
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      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000495806.1:p.Trp94_Ser310delinsLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysSerThrLysLysArgProSerProGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306066",
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN006294",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000209.2:p.Trp392_Ser676delinsLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306065",
      "coordinates": [
        {
          "allele": "A",
          "end": 1050,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN006294",
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      "hgvs": [
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        "hgvsWellDefined": "NP_861463.1:p.Trp265_Ser549delinsLysIleTyrIleArgLysAlaProArgSerHisThrLeuLeuSerProSerProLysProLysLysSerValValValLysLysLysLysPheLysLeuAspLysAspAsnGlyValThrProGlyGluLysMetLeuThrValProHisIleThrCysAspProProGluGluArgArgLeuAspHisPheSerValAspGlyTyrAspSerSerValArgLysSerProThrLeuLeuGluValSerMetProHisPheMetArgThrAsnSerPheAlaGluAspLeuAspLeuGluGlyGluThrLeuLeuThrProIleThrHisIleSerGlnLeuArgGluHisHisArgAlaThrIleLysValIleArgArgMetGlnTyrPheValAlaLysLysLysPheGlnGlnAlaArgLysProTyrAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306066",
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        {
          "allele": "A",
          "end": 1266,
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      ],
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1175G>A"
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          "RefSeq": {
            "hgvs": "NM_000218.3:c.1175G>A"
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        },
        "protein": {
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            "hgvs": "ENSP00000155840.2:p.Trp392Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Trp392Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}