{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580452991",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 553,
          "referenceAllele": "P",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024724",
      "geneNCBI_id": 79866,
      "geneSymbol": "BORA",
      "hgvs": [
        "NP_079084.4:p.Pro553Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7000821",
          "hgvs": "NM_024808.5:c.1658C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618595"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2210917[alleleid]",
        "alleleId": 2210917,
        "preferredName": "NM_024808.5(BORA):c.1658C>T (p.Pro553Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2221012",
        "RCV": [
          "RCV004085995"
        ],
        "variationId": 2221012
      }
    ]
  },
  "type": "amino-acid"
}