{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826475994",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 53,
          "referenceAllele": "V",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001245394.1:p.Val53Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379959085",
          "hgvs": "NM_001258465.3:c.157G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379959087",
          "hgvs": "NM_001258465.3:c.157G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1878044[alleleid]",
        "alleleId": 1878044,
        "preferredName": "NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137042",
        "RCV": [
          "RCV003037379"
        ],
        "variationId": 2137042
      }
    ]
  },
  "type": "amino-acid"
}