{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116226",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 140,
          "referenceAllele": "V",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001595.2:p.Val140Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116224",
          "hgvs": "NM_001604.6:c.419T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167499"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18510[alleleid]",
        "alleleId": 18510,
        "preferredName": "NM_001368894.2(PAX6):c.419T>A (p.Val140Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3471",
        "RCV": [
          "RCV000003636",
          "RCV002512714"
        ],
        "variationId": 3471
      }
    ]
  },
  "type": "amino-acid"
}