{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826822507",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "R",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NP_001280034.1:p.Arg179Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4276362",
          "hgvs": "NM_001293105.2:c.535C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164953"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2412852[alleleid]",
        "alleleId": 2412852,
        "preferredName": "NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2432343",
        "RCV": [
          "RCV003135501"
        ],
        "variationId": 2432343
      }
    ]
  },
  "type": "amino-acid"
}