{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097259",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 792,
          "referenceAllele": "W",
          "start": 791
        }
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      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NP_000247.2:p.Trp792Arg"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA012147",
          "hgvs": "NM_000256.3:c.2374T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA380318738",
          "hgvs": "NM_000256.3:c.2374T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45267[alleleid]",
        "alleleId": 45267,
        "preferredName": "NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=570683[alleleid]",
        "alleleId": 570683,
        "preferredName": "NM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36605",
        "RCV": [
          "RCV000030283",
          "RCV000223788",
          "RCV000228493",
          "RCV000621159",
          "RCV002477027",
          "RCV004549393"
        ],
        "variationId": 36605
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/578612",
        "RCV": [
          "RCV000701680"
        ],
        "variationId": 578612
      }
    ]
  },
  "type": "amino-acid"
}