{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3070948377",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 252,
          "referenceAllele": "Q",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_000347.2:p.Gln252Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA361742526",
          "hgvs": "NM_000356.4:c.754C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146901"
    }
  ],
  "type": "amino-acid"
}