{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826524519",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 214,
          "referenceAllele": "T",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NP_001257454.1:p.Thr214Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7200447",
          "hgvs": "NM_001270525.2:c.641C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273131[alleleid]",
        "alleleId": 273131,
        "preferredName": "NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288894",
        "RCV": [
          "RCV000536545",
          "RCV000338364",
          "RCV001111279",
          "RCV003165764",
          "RCV000989231"
        ],
        "variationId": 288894
      }
    ]
  },
  "type": "amino-acid"
}