{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094835",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 112,
          "referenceAllele": "R",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018292",
      "geneNCBI_id": 55997,
      "geneSymbol": "CFC1",
      "hgvs": [
        "NP_115934.1:p.Arg112Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281555",
          "hgvs": "NM_032545.4:c.334C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179687"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20226[alleleid]",
        "alleleId": 20226,
        "preferredName": "NM_032545.4(CFC1):c.334C>T (p.Arg112Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5187",
        "RCV": [
          "RCV000005496"
        ],
        "variationId": 5187
      }
    ]
  },
  "type": "amino-acid"
}