{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3086624010",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 483,
          "referenceAllele": "Q",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013356",
      "geneNCBI_id": 57192,
      "geneSymbol": "MCOLN1",
      "hgvs": [
        "NP_065394.1:p.Gln483Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA403089590",
          "hgvs": "NM_020533.3:c.1447C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176977"
    }
  ],
  "type": "amino-acid"
}