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      "proteinEffect": {
        "hgvs": "NP_001121077.1:p.Arg65Ter",
        "hgvsWellDefined": "NP_001121077.1:p.Arg65_Gln399delinsIleProHisGlyArgLysAsnHisSerAspLysGlyProLysProValValPheLeuGlnHisGlyLeuLeuAlaAspSerSerAsnTrpValThrAsnLeuAlaAsnSerSerLeuGlyPheIleLeuAlaAspAlaGlyPheAspValTrpMetGlyAsnSerArgGlyAsnThrTrpSerArgLysHisLysThrLeuSerValSerGlnAspGluPheTrpAlaPheSerTyrAspGluMetAlaLysTyrAspLeuProAlaSerIleAsnPheIleLeuAsnLysThrGlyGlnGluGlnValTyrTyrValGlyHisSerGlnGlyThrThrIleGlyPheIleAlaPheSerGlnIleProGluLeuAlaLysArgIleLysMetPhePheAlaLeuGlyProValAlaSerValAlaPheCysThrSerProMetAlaLysLeuGlyArgLeuProAspHisLeuIleLysAspLeuPheGlyAspLysGluPheLeuProGlnSerAlaPheLeuLysTrpLeuGlyThrHisValCysThrHisValIleLeuLysGluLeuCysGlyAsnLeuCysPheLeuLeuCysGlyPheAsnGluArgAsnLeuAsnMetSerArgValAspValTyrThrThrHisSerProAlaGlyThrSerValGlnAsnMetLeuHisTrpSerGlnAlaValLysPheGlnLysPheGlnAlaPheAspTrpGlySerSerAlaLysAsnTyrPheHisTyrAsnGlnSerTyrProProThrTyrAsnValLysAspMetLeuValProThrAlaValTrpSerGlyGlyHisAspTrpLeuAlaAspValTyrAspValAsnIleLeuLeuThrGlnIleThrAsnLeuValPheHisGluSerIleProGluTrpGluHisLeuAspPheIleTrpGlyLeuAspAlaProTrpArgLeuTyrAsnLysIleIleAsnLeuMetArgLysTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39,
          "endIntronDirection": "+",
          "endIntronOffset": 6025,
          "referenceAllele": "C",
          "start": 39,
          "startIntronDirection": "+",
          "startIntronOffset": 6024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001288979.2:c.-120+6025C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275908.1:n.-120+6025C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716512"
    }
  ],
  "type": "nucleotide"
}