{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825344986",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 252,
          "referenceAllele": "L",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NP_001025067.1:p.Leu252Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412943017",
          "hgvs": "NM_001029896.2:c.755T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149414"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1173963[alleleid]",
        "alleleId": 1173963,
        "preferredName": "NM_001029896.2(WDR45):c.755T>C (p.Leu252Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1184258",
        "RCV": [
          "RCV001542248"
        ],
        "variationId": 1184258
      }
    ]
  },
  "type": "amino-acid"
}