{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104568",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 485,
          "referenceAllele": "L",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NP_000391.1:p.Leu485Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA257628",
          "hgvs": "NM_000400.4:c.1454T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31830[alleleid]",
        "alleleId": 31830,
        "preferredName": "NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16791",
        "RCV": [
          "RCV000018282"
        ],
        "variationId": 16791
      }
    ]
  },
  "type": "amino-acid"
}