{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828293268",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 211,
          "referenceAllele": "Q",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001355818.1:p.Gln211Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379956918",
          "hgvs": "NM_001368889.2:c.632A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709643"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=639954[alleleid]",
        "alleleId": 639954,
        "preferredName": "NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648737",
        "RCV": [
          "RCV000803537"
        ],
        "variationId": 648737
      }
    ]
  },
  "type": "amino-acid"
}