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        "hgvsWellDefined": "NP_065390.1:p.Glu14_Leu317delinsGlyProArgAspGlyLeuLysLysGluArgLeuLeuAspAspArgHisAspSerGlyLeuAspSerMetLysAspGluGluTyrGluGlnMetValLysGluLeuGlnGluIleArgLeuGluProGlnGluValProArgGlySerGluProTrpLysGlnGlnLeuThrGluAspGlyAspSerPheLeuHisLeuAlaIleIleHisGluGluLysAlaLeuThrMetGluValIleArgGlnValLysGlyAspLeuAlaPheLeuAsnPheGlnAsnAsnLeuGlnGlnThrProLeuHisLeuAlaValIleThrAsnGlnProGluIleAlaGluAlaLeuLeuGlyAlaGlyCysAspProGluLeuArgAspPheArgGlyAsnThrProLeuHisLeuAlaCysGluGlnGlyCysLeuAlaSerValGlyValLeuThrGlnSerCysThrThrProHisLeuHisSerIleLeuLysAlaThrAsnTyrAsnGlyHisThrCysLeuHisLeuAlaSerIleHisGlyTyrLeuGlyIleValGluLeuLeuValSerLeuGlyAlaAspValAsnAlaGlnGluProCysAsnGlyArgThrAlaLeuHisLeuAlaValAspLeuGlnAsnProAspLeuValSerLeuLeuLeuLysCysGlyAlaAspValAsnArgValThrTyrGlnGlyTyrSerProTyrGlnLeuThrTrpGlyArgProSerThrArgIleGlnGlnGlnLeuGlyGlnLeuThrLeuGluAsnLeuGlnMetLeuProGluSerGluAspGluGluSerTyrAspThrGluSerGluPheThrGluPheThrGluAspGluLeuProTyrAspAspCysValPheGlyGlyGlnArgLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698252",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216797.10:c.40G>T"
          },
          "RefSeq": {
            "hgvs": "NM_020529.3:c.40G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216797.6:p.Glu14Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065390.1:p.Glu14Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}