{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825744061",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 288,
          "referenceAllele": "D",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NP_001124339.1:p.Asp288Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA158818",
          "hgvs": "NM_001130867.2:c.862G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152583"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137856[alleleid]",
        "alleleId": 137856,
        "preferredName": "NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134117",
        "RCV": [
          "RCV000120789",
          "RCV000990231",
          "RCV001514552",
          "RCV001657759",
          "RCV001657760"
        ],
        "variationId": 134117
      }
    ]
  },
  "type": "amino-acid"
}