{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826882888",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 590,
          "referenceAllele": "E",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NP_001290347.1:p.Glu590Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA158821",
          "hgvs": "NM_001303418.2:c.1768G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165977"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137857[alleleid]",
        "alleleId": 137857,
        "preferredName": "NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134118",
        "RCV": [
          "RCV000120790",
          "RCV001462857",
          "RCV002258798",
          "RCV003915201"
        ],
        "variationId": 134118
      }
    ]
  },
  "type": "amino-acid"
}