{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915989761",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "R",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019693",
      "geneNCBI_id": 51117,
      "geneSymbol": "COQ4",
      "hgvs": [
        "NP_057119.3:p.Arg240Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199144",
          "hgvs": "NM_016035.5:c.718C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673984"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187092[alleleid]",
        "alleleId": 187092,
        "preferredName": "NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189201",
        "RCV": [
          "RCV000169636",
          "RCV000256139",
          "RCV001640262",
          "RCV002515203",
          "RCV003390884"
        ],
        "variationId": 189201
      }
    ]
  },
  "type": "amino-acid"
}