HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000456737.1:p.Ser46_Ter47insCysArgGluCysLeuCysValSerGluValGluMetAlaCysProThrAlaLysGluValThrGlyArgLeuGlyAlaAlaLeuLeuAsnCysValGlnPheCysTyrThrValHisCysProLeuLeuGlyValCysMetTyrGluHisThrCysLeuSerGluArgPheLeuGlyValCysProLeuAlaLeuIleSerProIleProValProThrLeuProGluPhePheTyrProArgSerCysGlnProHisTrpGluSerValCysSerAsnGlyLeuSerCysLeuCysArgGlyAspLeuGluLeuCysThrCysHisTyrTrpGlyGlyValProAlaLeuAlaSerThrMetArgArgProLeuTyrLeuSerSerGlnSerLeuLeuPheLeuLysHisTyrTyrLeuPhePheArgCysLeuProAlaAlaValLeuLeuSerThr |
CA393870641
ENST00000556972.6:c.141A>T
CA393870643
ENST00000556972.6:c.141A>C
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