{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA199593",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 1041,
          "referenceAllele": "Q",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NP_000115.1:p.Gln1041Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199591",
          "hgvs": "NM_000124.4:c.3122A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146674"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187995[alleleid]",
        "alleleId": 187995,
        "preferredName": "NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190164",
        "RCV": [
          "RCV000170382",
          "RCV000266566",
          "RCV000323987",
          "RCV000358951",
          "RCV000515412",
          "RCV000724216",
          "RCV000988355",
          "RCV002516541"
        ],
        "variationId": 190164
      }
    ]
  },
  "type": "amino-acid"
}