{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2579802294",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 49,
          "referenceAllele": "P",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NP_000062.1:p.Pro49Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321103880",
          "hgvs": "NM_000071.3:c.146C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146623"
    }
  ],
  "type": "amino-acid"
}