{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645376315",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 108,
          "referenceAllele": "C",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NP_000371.1:p.Cys108Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374187825",
          "hgvs": "NM_000380.4:c.323G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146924"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421768[alleleid]",
        "alleleId": 421768,
        "preferredName": "NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430367",
        "RCV": [
          "RCV000492893",
          "RCV000672811"
        ],
        "variationId": 430367
      }
    ]
  },
  "type": "amino-acid"
}