{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573169091",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 268,
          "referenceAllele": "R",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NP_000368.1:p.Arg268Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10403992",
          "hgvs": "NM_000377.3:c.803G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1498054[alleleid]",
        "alleleId": 1498054,
        "preferredName": "NM_000377.3(WAS):c.803G>A (p.Arg268Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1461223",
        "RCV": [
          "RCV001965751"
        ],
        "variationId": 1461223
      }
    ]
  },
  "type": "amino-acid"
}