{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573062505",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 143,
          "referenceAllele": "R",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NP_000391.1:p.Arg143Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9513791",
          "hgvs": "NM_000400.4:c.428G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1309685[alleleid]",
        "alleleId": 1309685,
        "preferredName": "NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1319432",
        "RCV": [
          "RCV002256833",
          "RCV002540725"
        ],
        "variationId": 1319432
      }
    ]
  },
  "type": "amino-acid"
}