{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915992429",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 596,
          "referenceAllele": "A",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NP_005227.1:p.Ala596Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7910535",
          "hgvs": "NM_005236.3:c.1787C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170884"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=643913[alleleid]",
        "alleleId": 643913,
        "preferredName": "NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/662825",
        "RCV": [
          "RCV000820566",
          "RCV003153866"
        ],
        "variationId": 662825
      }
    ]
  },
  "type": "amino-acid"
}