{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826940001",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 106,
          "referenceAllele": "R",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001297087.1:p.Arg106Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5933924",
          "hgvs": "NM_001310158.2:c.317G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166863"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=867856[alleleid]",
        "alleleId": 867856,
        "preferredName": "NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/877705",
        "RCV": [
          "RCV001104915",
          "RCV001103655",
          "RCV001103656",
          "RCV001103657",
          "RCV001103658",
          "RCV001103659",
          "RCV001856403"
        ],
        "variationId": 877705
      }
    ]
  },
  "type": "amino-acid"
}