{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827928307",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "Y",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NP_001341658.1:p.Tyr579Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2267372",
          "hgvs": "NM_001354729.2:c.1736A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660259"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2749243[alleleid]",
        "alleleId": 2749243,
        "preferredName": "NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2581665",
        "RCV": [
          "RCV003332070",
          "RCV003459839"
        ],
        "variationId": 2581665
      }
    ]
  },
  "type": "amino-acid"
}