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          "RefSeq": {
            "hgvs": "NP_000052.1:p.Arg641Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741856173",
      "coordinates": [
        {
          "allele": "T",
          "end": 2270,
          "referenceAllele": "C",
          "start": 2269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.2023C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Arg675Cys",
        "hgvsWellDefined": "NP_001274273.1:p.Arg675Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742892",
      "coordinates": [
        {
          "allele": "T",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.1393C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Arg465Cys",
        "hgvsWellDefined": "NP_001274274.1:p.Arg465Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}