{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013596",
  "communityStandardTitle": [
    "NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51860[alleleid]",
        "alleleId": 51860,
        "preferredName": "NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42690",
        "RCV": [
          "RCV000035563",
          "RCV000158219",
          "RCV000628946",
          "RCV000619311",
          "RCV000625352",
          "RCV001171135"
        ],
        "variationId": 42690
      }
    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/11-47355117-G-A",
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      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47355117G>A?assembly=hg19",
        "id": "chr11:g.47355117G>A"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47333566G>A?assembly=hg38",
        "id": "chr11:g.47333566G>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516005",
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      }
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    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47333566-G-A?dataset=gnomad_r3",
        "id": "11-47333566-G-A",
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    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47333566-G-A?dataset=gnomad_r4",
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      "coordinates": [
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          "end": 47333566,
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
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    },
    {
      "chromosome": "11",
      "coordinates": [
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          "end": 47311693,
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          "start": 47311692
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        "NC_000011.8:g.47311693G>A"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
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          "end": 24137,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS000670"
    }
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  "transcriptAlleles": [
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      "coordinates": [
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      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759826",
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        "maneStatus": "MANE Select",
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          "RefSeq": {
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          }
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        "protein": {
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      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3236,
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      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000399249.6:c.3181C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382193.2:p.Gln1061Ter",
        "hgvsWellDefined": "ENSP00000382193.2:p.Gln1061_Gln1274delinsValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246628"
    },
    {
      "coordinates": [
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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": "ENSP00000442795.1:p.Gln1061_Gln1274delinsValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273394",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007551",
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      "hgvs": [
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        "LRG_386t1:c.3181C>T"
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        "hgvsWellDefined": "NP_000247.2:p.Gln1061_Gln1274delinsValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006318",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_000256.3:c.3181C>T"
          }
        },
        "protein": {
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          "RefSeq": {
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          }
        }
      }
    },
    {
      "coordinates": [
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          "allele": "T",
          "end": 3218,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520117.1:c.3163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518419.1:p.Gln1055Ter",
        "hgvsWellDefined": "XP_011518419.1:p.Gln1055_Gln1268delinsValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011518420.1:p.Gln1034Ter",
        "hgvsWellDefined": "XP_011518420.1:p.Gln1034_Gln1247delinsValValAspLysProSerProProGlnAspLeuArgValThrAspAlaTrpGlyLeuAsnValAlaLeuGluTrpLysProProGlnAspValGlyAsnThrGluLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087287"
    }
  ],
  "type": "nucleotide"
}