{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA158769",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 635,
          "referenceAllele": "A",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NP_000391.1:p.Ala635Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA158767",
          "hgvs": "NM_000400.4:c.1904C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137839[alleleid]",
        "alleleId": 137839,
        "preferredName": "NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134100",
        "RCV": [
          "RCV000120772",
          "RCV001129001",
          "RCV000860939",
          "RCV002257422",
          "RCV004542873"
        ],
        "variationId": 134100
      }
    ]
  },
  "type": "amino-acid"
}