{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA186042",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 448,
          "referenceAllele": "R",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NP_000775.1:p.Arg448Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA186041",
          "hgvs": "NM_000784.4:c.1342C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181406[alleleid]",
        "alleleId": 181406,
        "preferredName": "NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183278",
        "RCV": [
          "RCV000162100",
          "RCV000171331",
          "RCV001850285",
          "RCV001804890",
          "RCV004019950"
        ],
        "variationId": 183278
      }
    ]
  },
  "type": "amino-acid"
}