{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915989070",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "referenceAllele": "R",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NP_009006.2:p.Arg233Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412943588",
          "hgvs": "NM_007075.4:c.697C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172559"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=793888[alleleid]",
        "alleleId": 793888,
        "preferredName": "NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/805749",
        "RCV": [
          "RCV000993551",
          "RCV001260809",
          "RCV002549839"
        ],
        "variationId": 805749
      }
    ]
  },
  "type": "amino-acid"
}