{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825029064",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 588,
          "referenceAllele": "W",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NP_000052.1:p.Trp588Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413919556",
          "hgvs": "NM_000061.3:c.1763G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146613"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1355489[alleleid]",
        "alleleId": 1355489,
        "preferredName": "NM_000061.3(BTK):c.1763G>T (p.Trp588Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1493291",
        "RCV": [
          "RCV001984261"
        ],
        "variationId": 1493291
      }
    ]
  },
  "type": "amino-acid"
}