{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499238293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 453,
          "referenceAllele": "R",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000303",
      "geneNCBI_id": 165,
      "geneSymbol": "AEBP1",
      "hgvs": [
        "NP_001120.3:p.Arg453Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4237866",
          "hgvs": "NM_001129.5:c.1358G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151991"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1000593[alleleid]",
        "alleleId": 1000593,
        "preferredName": "NM_001129.5(AEBP1):c.1358G>A (p.Arg453Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1012797",
        "RCV": [
          "RCV001310964"
        ],
        "variationId": 1012797
      }
    ]
  },
  "type": "amino-acid"
}