{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645447651",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "referenceAllele": "Y",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "NP_872282.1:p.Tyr412Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7264486",
          "hgvs": "NM_182476.3:c.1235A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184452"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362107[alleleid]",
        "alleleId": 362107,
        "preferredName": "NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375343",
        "RCV": [
          "RCV000416384",
          "RCV002521492"
        ],
        "variationId": 375343
      }
    ]
  },
  "type": "amino-acid"
}