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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.2662G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Glu888Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Glu888_Cys952delinsLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}