{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013265",
  "communityStandardTitle": [
    "NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=179222[alleleid]",
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        "preferredName": "NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180993",
        "RCV": [
          "RCV000158203",
          "RCV001388605",
          "RCV004019909"
        ],
        "variationId": 180993
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47355475G>A?assembly=hg19",
        "id": "chr11:g.47355475G>A"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47333924G>A?assembly=hg38",
        "id": "chr11:g.47333924G>A"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11570112",
        "rs": 11570112
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      "referenceGenome": "GRCh38",
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    },
    {
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
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      "referenceGenome": "NCBI36",
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    },
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    }
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      "geneNCBI_id": 4607,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759826",
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        "maneStatus": "MANE Select",
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        },
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          }
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      }
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    {
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000256993.5:p.Gln998_Gln1274delinsGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247153"
    },
    {
      "coordinates": [
        {
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          "end": 3047,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000399249.6:c.2992C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382193.2:p.Gln998Ter",
        "hgvsWellDefined": "ENSP00000382193.2:p.Gln998_Gln1274delinsGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246628"
    },
    {
      "coordinates": [
        {
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          "end": 3047,
          "referenceAllele": "C",
          "start": 3046
        }
      ],
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      "geneNCBI_id": 4607,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA296321",
      "coordinates": [
        {
          "allele": "T",
          "end": 3047,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000247.2:p.Gln998_Gln1274delinsGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
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        },
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007551",
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      "geneSymbol": "MYBPC3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011518419.1:p.Gln992_Gln1268delinsGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2966,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011518420.1:p.Gln971_Gln1247delinsGlyLysProArgProGlnValThrTrpThrLysGluGlyGlnProLeuAlaGlyGluGluValSerIleArgAsnSerProThrAspThrIleLeuPheIleArgAlaAlaArgArgValHisSerGlyThrTyrGlnValThrValArgIleGluAsnMetGluAspLysAlaThrLeuValLeuGlnValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087287"
    }
  ],
  "type": "nucleotide"
}