{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830002703",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 450,
          "referenceAllele": "H",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NP_077744.4:p.His450Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016298",
          "hgvs": "NM_024426.6:c.1348C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625777"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18534[alleleid]",
        "alleleId": 18534,
        "preferredName": "NM_024426.6(WT1):c.1348C>T (p.His450Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3495",
        "RCV": [
          "RCV000003667",
          "RCV000003668",
          "RCV002512715"
        ],
        "variationId": 3495
      }
    ]
  },
  "type": "amino-acid"
}