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      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.*43del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*43del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}