{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826780905",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 208,
          "referenceAllele": "W",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003439",
      "geneNCBI_id": 1161,
      "geneSymbol": "ERCC8",
      "hgvs": [
        "NP_001277214.1:p.Trp208Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129810",
          "hgvs": "NM_001290285.1:c.624G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA359822538",
          "hgvs": "NM_001290285.1:c.624G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164571"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79644[alleleid]",
        "alleleId": 79644,
        "preferredName": "NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68752",
        "RCV": [
          "RCV000024268",
          "RCV000059645"
        ],
        "variationId": 68752
      }
    ]
  },
  "type": "amino-acid"
}