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"proteinEffect": { "hgvs": "NP_000305.3:p.Gln214Ter", "hgvsWellDefined": "NP_000305.3:p.Gln214_Val403delinsPheValValCysGlnLeuLysValLysIleTyrSerSerAsnSerGlyProThrArgArgGluAspLysPheMetTyrPheGluPheProGlnProLeuProValCysGlyAspIleLysValGluPhePheHisLysGlnAsnLysMetLeuLysLysAspLysMetPheHisPheTrpValAsnThrPhePheIleProGlyProGluGluThrSerGluLysValGluAsnGlySerLeuCysAspGlnGluIleAspSerIleCysSerIleGluArgAlaAspAsnAspLysGluTyrLeuValLeuThrLeuThrLysAsnAspLeuAspLysAlaAsnLysAspLysAlaAsnArgTyrPheSerProAsnPheLysValLysLeuTyrPheThrLysThrValGluGluProSerAsnProGluAlaSerSerSerThrSerValThrProAspValSerAspAsnGluProAspHisTyrArgTyrSerAspThrThrAspSerAspProGluAsnGluProPheAspGluAspGlnHisThrGlnIleThrLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371953.8:c.640C>T" }, "RefSeq": { "hgvs": "NM_000314.8:c.640C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361021.3:p.Gln214Ter" }, "RefSeq": { "hgvs": "NP_000305.3:p.Gln214Ter" } } } } ], "type": "nucleotide" }