{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916047395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 75,
          "referenceAllele": "R",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001355856.1:p.Arg75Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116221",
          "hgvs": "NM_001368927.2:c.223C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709606"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18509[alleleid]",
        "alleleId": 18509,
        "preferredName": "NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3470",
        "RCV": [
          "RCV000003635",
          "RCV000984410",
          "RCV001851621"
        ],
        "variationId": 3470
      }
    ]
  },
  "type": "amino-acid"
}