{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA248737",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 283,
          "referenceAllele": "R",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NP_000113.1:p.Arg283Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248735",
          "hgvs": "NM_000122.2:c.847C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146672"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137867[alleleid]",
        "alleleId": 137867,
        "preferredName": "NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134128",
        "RCV": [
          "RCV000120800",
          "RCV000765502",
          "RCV001129472",
          "RCV001294157",
          "RCV001362006",
          "RCV002257425",
          "RCV004019680"
        ],
        "variationId": 134128
      }
    ]
  },
  "type": "amino-acid"
}