{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499231832",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 69,
          "referenceAllele": "C",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NP_000368.1:p.Cys69Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10403869",
          "hgvs": "NM_000377.3:c.206G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412866447",
          "hgvs": "NM_000377.3:c.205T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1289046[alleleid]",
        "alleleId": 1289046,
        "preferredName": "NM_000377.3(WAS):c.206G>C (p.Cys69Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1299185",
        "RCV": [
          "RCV001725810",
          "RCV002073401",
          "RCV003401658"
        ],
        "variationId": 1299185
      }
    ]
  },
  "type": "amino-acid"
}