{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645470663",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 468,
          "referenceAllele": "T",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NP_078872.2:p.Thr468Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4610542",
          "hgvs": "NM_024596.4:c.1403C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178380"
    }
  ],
  "type": "amino-acid"
}