{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830156965",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "NP_536800.2:p.Cys406Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351595240",
          "hgvs": "NM_080539.4:c.1216T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180684"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1925539[alleleid]",
        "alleleId": 1925539,
        "preferredName": "NM_005677.4(COLQ):c.1318T>C (p.Cys440Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203310",
        "RCV": [
          "RCV002651642"
        ],
        "variationId": 2203310
      }
    ]
  },
  "type": "amino-acid"
}