{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826524075",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 85,
          "referenceAllele": "W",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NP_001257453.1:p.Trp85Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA390052207",
          "hgvs": "NM_001270524.2:c.254G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160809"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1323502[alleleid]",
        "alleleId": 1323502,
        "preferredName": "NM_021728.4(OTX2):c.278G>T (p.Trp93Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1332784",
        "RCV": [
          "RCV001806358"
        ],
        "variationId": 1332784
      }
    ]
  },
  "type": "amino-acid"
}