{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826768113",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 39,
          "referenceAllele": "R",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "NP_001276726.1:p.Arg39Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA049137",
          "hgvs": "NM_001289797.2:c.116G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA049219",
          "hgvs": "NM_001289797.2:c.[116G>A;-69G>T]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164385"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178310[alleleid]",
        "alleleId": 178310,
        "preferredName": "NM_000281.4(PCBD1):c.263G>A (p.Arg88Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242621",
        "RCV": [
          "RCV000880965",
          "RCV004020912",
          "RCV003907903"
        ],
        "variationId": 242621
      }
    ]
  },
  "type": "amino-acid"
}