{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741812182",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 258,
          "referenceAllele": "E",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NP_000247.2:p.Glu258Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA380334166",
          "hgvs": "NM_000256.3:c.772G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3020131[alleleid]",
        "alleleId": 3020131,
        "preferredName": "NM_000256.3(MYBPC3):c.772G>C (p.Glu258Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2866523",
        "RCV": [
          "RCV003747942"
        ],
        "variationId": 2866523
      }
    ]
  },
  "type": "amino-acid"
}