{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057520336",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 551,
          "referenceAllele": "E",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "NP_064632.2:p.Glu551Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA38653432",
          "hgvs": "NM_020247.5:c.1651G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176823"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3792234[alleleid]",
        "alleleId": 3792234,
        "preferredName": "NM_020247.5(COQ8A):c.1651G>C (p.Glu551Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3666430",
        "RCV": [
          "RCV005139792"
        ],
        "variationId": 3666430
      }
    ]
  },
  "type": "amino-acid"
}