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      "hgvs": [
        "NM_001167990.2:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161462.1:p.Arg147Ter",
        "hgvsWellDefined": "NP_001161462.1:p.Arg147_Asp257delinsAspArgGluArgAspArgAspArgGlyTyrAspLysAlaAspArgGluGluGlyLysGluArgArgHisHisArgArgGluGluLeuAlaProTyrProLysSerLysLysAlaValSerArgLysAspGluGluLeuAspProMetAspProSerSerTyrSerAspAlaProArgGlyThrTrpSerThrGlyLeuProLysArgAsnGluAlaLysThrGlyAlaAspThrThrAlaAlaGlyProLeuPheGlnGlnArgProTyrProSerProGlyAlaValLeuArgAlaAsnAlaGluAlaSerArgThrLysGlnGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "endIntronDirection": "-",
          "endIntronOffset": 328,
          "referenceAllele": "C",
          "start": 463,
          "startIntronDirection": "-",
          "startIntronOffset": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NM_144495.3:c.293-329C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_652766.1:n.293-329C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729230"
    }
  ],
  "type": "nucleotide"
}