{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057318582",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 550,
          "referenceAllele": "Q",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NP_001274273.1:p.Gln550del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3044590632",
          "hgvs": "NM_001287344.2:c.1648_1650del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163773"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3540098[alleleid]",
        "alleleId": 3540098,
        "preferredName": "NM_000061.3(BTK):c.1546_1548del (p.Gln516del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3380926",
        "RCV": [
          "RCV004791090"
        ],
        "variationId": 3380926
      }
    ]
  },
  "type": "amino-acid"
}