{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3088612991",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 378,
          "referenceAllele": "Q",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NP_071364.4:p.Gln378Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10163395",
          "hgvs": "NM_022081.5:c.1132C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177710"
    }
  ],
  "type": "amino-acid"
}