{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915973383",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 88,
          "referenceAllele": "R",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NP_001124339.1:p.Arg88His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126883",
          "hgvs": "NM_001130867.2:c.263G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152583"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31823[alleleid]",
        "alleleId": 31823,
        "preferredName": "NM_000400.4(ERCC2):c.335G>A (p.Arg112His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16784",
        "RCV": [
          "RCV000018274",
          "RCV000018273",
          "RCV000424822",
          "RCV003466865"
        ],
        "variationId": 16784
      }
    ]
  },
  "type": "amino-acid"
}