{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825344812",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2,
          "referenceAllele": "T",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NP_001025067.1:p.Thr2Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412949578",
          "hgvs": "NM_001029896.2:c.5C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149414"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1619546[alleleid]",
        "alleleId": 1619546,
        "preferredName": "NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1538320",
        "RCV": [
          "RCV002167196"
        ],
        "variationId": 1538320
      }
    ]
  },
  "type": "amino-acid"
}