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      "geneNCBI_id": 444,
      "geneSymbol": "ASPH",
      "hgvs": [
        "NM_001164750.2:c.2094_2096dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158222.1:p.Trp699Ter",
        "hgvsWellDefined": "NP_001158222.1:p.Trp699_Ile729delinsGlnAspAlaSerSerPheArgLeuIlePheIleValAspValTrpHisProGluLeuThrProGlnGlnArgArgSerLeuProAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678380"
    }
  ],
  "type": "nucleotide"
}