{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645401882",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 406,
          "referenceAllele": "Q",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NP_005227.1:p.Gln406Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7910427",
          "hgvs": "NM_005236.3:c.1217A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170884"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=333735[alleleid]",
        "alleleId": 333735,
        "preferredName": "NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/317810",
        "RCV": [
          "RCV000380080",
          "RCV001850680",
          "RCV002257638",
          "RCV002502235"
        ],
        "variationId": 317810
      }
    ]
  },
  "type": "amino-acid"
}