{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097008",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 542,
          "referenceAllele": "E",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NP_000247.2:p.Glu542Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010806",
          "hgvs": "NM_000256.3:c.1624G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23647[alleleid]",
        "alleleId": 23647,
        "preferredName": "NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8608",
        "RCV": [
          "RCV000009139",
          "RCV000035424",
          "RCV000158104",
          "RCV000201915",
          "RCV000199033",
          "RCV000247235",
          "RCV000505586",
          "RCV000627130",
          "RCV001170957",
          "RCV003332998",
          "RCV003387501"
        ],
        "variationId": 8608
      }
    ]
  },
  "type": "amino-acid"
}