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      "gene": "http://reg.genome.network/gene/GN001241",
      "geneNCBI_id": 712,
      "geneSymbol": "C1QA",
      "hgvs": [
        "NM_001347466.2:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334395.1:p.Gln208Ter",
        "hgvsWellDefined": "NP_001334395.1:p.Gln208_Ala245delinsLeuGlnGlnGlyAspGlnValTrpValGluLysAspProLysLysGlyHisIleTyrGlnGlySerGluAlaAspSerValPheSerGlyPheLeuIlePheProSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719046"
    }
  ],
  "type": "nucleotide"
}