{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA158784",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 751,
          "referenceAllele": "K",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NP_000391.1:p.Lys751Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA158782",
          "hgvs": "NM_000400.4:c.2251A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137844[alleleid]",
        "alleleId": 137844,
        "preferredName": "NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134105",
        "RCV": [
          "RCV000120777",
          "RCV000282755",
          "RCV000436606",
          "RCV000418924",
          "RCV001514550",
          "RCV001657758",
          "RCV001657757"
        ],
        "variationId": 134105
      }
    ]
  },
  "type": "amino-acid"
}