{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013793",
  "communityStandardTitle": [
    "NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23655[alleleid]",
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      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8616",
        "RCV": [
          "RCV000009147",
          "RCV000158223",
          "RCV000621059",
          "RCV000628863",
          "RCV002496311",
          "RCV003486544"
        ],
        "variationId": 8616
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        "id": "chr11:g.47354789C>A"
      }
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        "id": "chr11:g.47333238C>A"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909377",
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        "variant": "11:47333238 C / A"
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    "gnomAD_4": [
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          "start": 47333237
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
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      "coordinates": [
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    },
    {
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          "start": 47311364
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS000670"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
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      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759826",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247153"
    },
    {
      "coordinates": [
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      "geneNCBI_id": 4607,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000382193.2:p.Glu1096_Gln1274delinsLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246628"
    },
    {
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      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254514",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006318",
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        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
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        },
        "protein": {
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          },
          "RefSeq": {
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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.Glu1090_Gln1268delinsLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "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.Glu1069Ter",
        "hgvsWellDefined": "XP_011518420.1:p.Glu1069_Gln1247delinsLeuTrpGlyTyrThrValGlnLysAlaAspLysLysThrMetGluTrpPheThrValLeuGluHisTyrArgArgThrHisCysValValProGluLeuIleIleGlyAsnGlyTyrTyrPheArgValPheSerGlnAsnMetValGlyPheSerAspArgAlaAlaThrThrLysGluProValPheIleProArgProGlyIleThrTyrGluProProAsnTyrLysAlaLeuAspPheSerGluAlaProSerPheThrGlnProLeuValAsnArgSerValIleAlaGlyTyrThrAlaMetLeuCysCysAlaValArgGlySerProLysProLysIleSerTrpPheLysAsnGlyLeuAspLeuGlyGluAspAlaArgPheArgMetPheSerLysGlnGlyValLeuThrLeuGluIleArgLysProCysProPheAspGlyGlyIleTyrValCysArgAlaThrAsnLeuGlnGlyGluAlaArgCysGluCysArgLeuGluValArgValProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087287"
    }
  ],
  "type": "nucleotide"
}