{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA199587",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 666,
          "referenceAllele": "R",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NP_000115.1:p.Arg666Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199585",
          "hgvs": "NM_000124.4:c.1996C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146674"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188003[alleleid]",
        "alleleId": 188003,
        "preferredName": "NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190156",
        "RCV": [
          "RCV000170374",
          "RCV000344840",
          "RCV000384253",
          "RCV000289884",
          "RCV000515272",
          "RCV000724215",
          "RCV002515214"
        ],
        "variationId": 190156
      }
    ]
  },
  "type": "amino-acid"
}