{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741936559",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 237,
          "referenceAllele": "D",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NP_009006.2:p.Asp237Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412943472",
          "hgvs": "NM_007075.4:c.711C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412943476",
          "hgvs": "NM_007075.4:c.711C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172559"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2970900[alleleid]",
        "alleleId": 2970900,
        "preferredName": "NM_001029896.2(WDR45):c.708C>G (p.Asp236Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2804672",
        "RCV": [
          "RCV003735121"
        ],
        "variationId": 2804672
      }
    ]
  },
  "type": "amino-acid"
}