HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000453254.1:p.His38_Ter39insLeuPheLysLeuLysLysMetTrpLysSerProAsnGlyThrIleArgAsnIleLeuGlyGlyThrValPheArgGluProIleIleCysLysAsnIleProArgLeuValProGlyTrpThrLysProIleThrIleGlyArgHisAlaHisGlyAspGlnTyrLysAlaThrAspPheValAlaAspArgAlaGlyThrPheLysMetValPheThrProLysAspGlySerGlyValLysGluTrpGluValTyrAsnPheProAlaGlyGlyValGlyMetGlyMetTyrAsnThrAspGluSerIleSerGlyPheAlaHisSerCysPheGlnTyrAlaIleGlnLysLysTrpProLeuTyrMetSerThrLysAsnThrIleLeuLysAlaTyrAspGlyArgPheLysAspIlePheGlnGluIlePheAspLysHisTyrLysThrAspPheAspLysAsnLysIleTrpTyrGluHisArgLeuIleAspAspMetValAlaGlnValLeuLysSerSerGlyGlyPheValTrpAlaCysLysAsnTyrAspGlyAspValGlnSerAspIleLeuAlaGlnGlyPheGlySerLeuGlyLeuMetThrSerValLeuValCysProAspGlyLysThrIleGluAlaGluAlaAlaHisGlyThrValThrArgHisTyrArgGluHisGlnLysGlyArgProThrSerThrAsnProIleAlaSerIlePheAlaTrpThrArgGlyLeuGluHisArgGlyLysLeuAspGlyAsnGlnAspLeuIleArgPheAlaGlnMetLeuGluLysValCysValGluThrValGluSerGlyAlaMetThrLysAspLeuAlaGlyCysIleHisGlyLeuSerAsnValLysLeuAsnGluHisPheLeuAsnThrThrAspPheLeuAspThrIleLysSerAsnLeuAspArgAlaLeuGlyArgGln |
CA393802533
ENST00000560061.1:c.116A>T
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