{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645424643",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1431,
          "referenceAllele": "S",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NP_001116857.1:p.Ser1431Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10386468",
          "hgvs": "NM_001123385.2:c.4292C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151931"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389190[alleleid]",
        "alleleId": 389190,
        "preferredName": "NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402203",
        "RCV": [
          "RCV000454264",
          "RCV002248664",
          "RCV003989531"
        ],
        "variationId": 402203
      }
    ]
  },
  "type": "amino-acid"
}