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"http://reg.genome.network/gene/GN023246", "geneNCBI_id": 84665, "geneSymbol": "MYPN", "hgvs": [ "NM_032578.4:c.3296T>A" ], "proteinEffect": { "hgvs": "NP_115967.2:p.Leu1099Ter", "hgvsWellDefined": "NP_115967.2:p.Leu1099_Leu1320delinsProProProGluLeuThrTrpLeuLeuAsnGlyGlnProValLeuProAspAlaSerHisLysMetLeuValArgGluThrGlyValHisSerLeuLeuIleAspProLeuThrGlnArgAspAlaGlyThrTyrLysCysIleAlaThrAsnLysThrGlyGlnAsnSerPheSerLeuGluLeuSerValValAlaLysGluValLysLysAlaProValIleLeuGluLysLeuGlnAsnCysGlyValProGluGlyHisProValArgLeuGluCysArgValIleGlyMetProProProValPheTyrTrpLysLysAspAsnGluThrIleProCysThrArgGluArgIleSerMetHisGlnAspThrThrGlyTyrAlaCysLeuLeuIleGlnProAlaLysLysSerAspAlaGlyTrpTyrThrLeuSerAlaLysAsnGluAlaGlyIleValSerCysThrAlaArgLeuAspIleTyrAlaGlnTrpHisHisGlnIleProProProMetSerValArgProSerGlySerArgTyrGlySerLeuThrSerLysGlyLeuAspIlePheSerAlaPheSerSerMetGluSerThrMetValTyrSerCysSerSerArgSerValValGluSerAspGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358913.10:c.3296T>A" }, "RefSeq": { "hgvs": "NM_032578.4:c.3296T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351790.5:p.Leu1099Ter" }, "RefSeq": { "hgvs": "NP_115967.2:p.Leu1099Ter" } } } } ], "type": "nucleotide" }