{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573253358",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 317,
          "referenceAllele": "T",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NP_009006.2:p.Thr317Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10408447",
          "hgvs": "NM_007075.4:c.950C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412941924",
          "hgvs": "NM_007075.4:c.949A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172559"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1516395[alleleid]",
        "alleleId": 1516395,
        "preferredName": "NM_001029896.2(WDR45):c.947C>G (p.Thr316Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1520401",
        "RCV": [
          "RCV002038667",
          "RCV003443002"
        ],
        "variationId": 1520401
      }
    ]
  },
  "type": "amino-acid"
}