{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3063989550",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "S",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NP_002218.2:p.Ser646Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340667880",
          "hgvs": "NM_002227.4:c.1937C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168097"
    }
  ],
  "type": "amino-acid"
}