{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116290",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 229,
          "referenceAllele": "H",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NP_001185480.1:p.His229Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016292",
          "hgvs": "NM_001198551.1:c.687C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379959168",
          "hgvs": "NM_001198551.1:c.687C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157237"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18537[alleleid]",
        "alleleId": 18537,
        "preferredName": "NM_024426.6(WT1):c.1338C>G (p.His446Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=961571[alleleid]",
        "alleleId": 961571,
        "preferredName": "NM_024426.6(WT1):c.1338C>A (p.His446Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3498",
        "RCV": [
          "RCV000003672"
        ],
        "variationId": 3498
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/973193",
        "RCV": [
          "RCV001280531",
          "RCV001879755"
        ],
        "variationId": 973193
      }
    ]
  },
  "type": "amino-acid"
}