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      "hgvs": [
        "NM_006941.4:c.341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008872.1:p.Trp114Ter",
        "hgvsWellDefined": "NP_008872.1:p.Trp114_Pro466delinsAlaGlnAlaAlaArgArgLysLeuAlaAspGlnTyrProHisLeuHisAsnAlaGluLeuSerLysThrLeuGlyLysLeuTrpArgLeuLeuAsnGluSerAspLysArgProPheIleGluGluAlaGluArgLeuArgMetGlnHisLysLysAspHisProAspTyrLysTyrGlnProArgArgArgLysAsnGlyLysAlaAlaGlnGlyGluAlaGluCysProGlyGlyGluAlaGluGlnGlyGlyThrAlaAlaIleGlnAlaHisTyrLysSerAlaHisLeuAspHisArgHisProGlyGluGlySerProMetSerAspGlyAsnProGluHisProSerGlyGlnSerHisGlyProProThrProProThrThrProLysThrGluLeuGlnSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696861",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396884.8:c.341G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006941.4:c.341G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380093.2:p.Trp114Ter"
          },
          "RefSeq": {
            "hgvs": "NP_008872.1:p.Trp114Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}