{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3085444979",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 775,
          "referenceAllele": "Q",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NP_000262.2:p.Gln775Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401793688",
          "hgvs": "NM_000271.5:c.2324A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146818"
    }
  ],
  "type": "amino-acid"
}