{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826476019",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001245394.1:p.Gly72Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379958869",
          "hgvs": "NM_001258465.3:c.214G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=789028[alleleid]",
        "alleleId": 789028,
        "preferredName": "NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/800414",
        "RCV": [
          "RCV000984387",
          "RCV002549623",
          "RCV003117658"
        ],
        "variationId": 800414
      }
    ]
  },
  "type": "amino-acid"
}