HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000453254.1:p.His38_Ter39insTyrPheLysLeuLysLysMetTrpLysSerProAsnGlyThrIleArgAsnIleLeuGlyGlyThrValPheArgGluProIleIleCysLysAsnIleProArgLeuValProGlyTrpThrLysProIleThrIleGlyArgHisAlaHisGlyAspGlnTyrLysAlaThrAspPheValAlaAspArgAlaGlyThrPheLysMetValPheThrProLysAspGlySerGlyValLysGluTrpGluValTyrAsnPheProAlaGlyGlyValGlyMetGlyMetTyrAsnThrAspGluSerIleSerGlyPheAlaHisSerCysPheGlnTyrAlaIleGlnLysLysTrpProLeuTyrMetSerThrLysAsnThrIleLeuLysAlaTyrAspGlyArgPheLysAspIlePheGlnGluIlePheAspLysHisTyrLysThrAspPheAspLysAsnLysIleTrpTyrGluHisArgLeuIleAspAspMetValAlaGlnValLeuLysSerSerGlyGlyPheValTrpAlaCysLysAsnTyrAspGlyAspValGlnSerAspIleLeuAlaGlnGlyPheGlySerLeuGlyLeuMetThrSerValLeuValCysProAspGlyLysThrIleGluAlaGluAlaAlaHisGlyThrValThrArgHisTyrArgGluHisGlnLysGlyArgProThrSerThrAsnProIleAlaSerIlePheAlaTrpThrArgGlyLeuGluHisArgGlyLysLeuAspGlyAsnGlnAspLeuIleArgPheAlaGlnMetLeuGluLysValCysValGluThrValGluSerGlyAlaMetThrLysAspLeuAlaGlyCysIleHisGlyLeuSerAsnValLysLeuAsnGluHisPheLeuAsnThrThrAspPheLeuAspThrIleLysSerAsnLeuAspArgAlaLeuGlyArgGln |
CA393802531
ENST00000560061.1:c.117G>T
CA393802532
ENST00000560061.1:c.117G>C
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