{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580331794",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 112,
          "referenceAllele": "R",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "NP_005509.1:p.Arg112Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1037908",
          "hgvs": "NM_005518.4:c.334C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171144"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2104808[alleleid]",
        "alleleId": 2104808,
        "preferredName": "NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2052100",
        "RCV": [
          "RCV002932473"
        ],
        "variationId": 2052100
      }
    ]
  },
  "type": "amino-acid"
}