{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3087951720",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 348,
          "referenceAllele": "D",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001040",
      "geneNCBI_id": 631,
      "geneSymbol": "BFSP1",
      "hgvs": [
        "NP_001186.1:p.Asp348Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408316445",
          "hgvs": "NM_001195.5:c.1042G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157431"
    }
  ],
  "type": "amino-acid"
}