{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826742761",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 289,
          "referenceAllele": "S",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NP_001274274.1:p.Ser289Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413930025",
          "hgvs": "NM_001287345.2:c.867T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413930030",
          "hgvs": "NM_001287345.2:c.867T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413930053",
          "hgvs": "NM_001287345.2:c.865A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163774"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=929528[alleleid]",
        "alleleId": 929528,
        "preferredName": "NM_000061.3(BTK):c.867T>A (p.Ser289Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/944765",
        "RCV": [
          "RCV001215240"
        ],
        "variationId": 944765
      }
    ]
  },
  "type": "amino-acid"
}