{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825028979",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 521,
          "referenceAllele": "D",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NP_000052.1:p.Asp521Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413922923",
          "hgvs": "NM_000061.3:c.1563C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413922927",
          "hgvs": "NM_000061.3:c.1563C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146613"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1433982[alleleid]",
        "alleleId": 1433982,
        "preferredName": "NM_000061.3(BTK):c.1563C>G (p.Asp521Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1519488",
        "RCV": [
          "RCV002024646"
        ],
        "variationId": 1519488
      }
    ]
  },
  "type": "amino-acid"
}