{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3083289223",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1052,
          "referenceAllele": "Q",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NP_002959.2:p.Gln1052Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA395881681",
          "hgvs": "NM_002968.3:c.3154C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168795"
    }
  ],
  "type": "amino-acid"
}