{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645401928",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 740,
          "referenceAllele": "R",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NP_005227.1:p.Arg740Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7910705",
          "hgvs": "NM_005236.3:c.2218C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170884"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413430[alleleid]",
        "alleleId": 413430,
        "preferredName": "NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425096",
        "RCV": [
          "RCV000488081",
          "RCV001205641",
          "RCV002506183"
        ],
        "variationId": 425096
      }
    ]
  },
  "type": "amino-acid"
}