HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000206.2:p.Ser1124_Ter1125insTyrLeuLeuProAlaAspLeuTrpIleArgSerLeuLeuThrGlyCysValThrLeuGlyProGluLeuProLeuSerGlyProGlnArgProTyrGluGlyProLeuLeuGlnGluHisProHisAspIleAlaPheGlyGlyAlaProValAlaCysArgIleAlaCysGlyLeuCysAsnLeuLeuArgPheLysThrAspGlyHisMetCysGlnTrpGlySerLeuSerProGlyProLysLysGlnGlyThrLysPheLysThrLeuAlaSerSerGlnProLeuLysProTrpProProGluPheProPheLeuSerLeuSerPheTyrPhePheTyrPheTyrPheTyrPhe |
CA404762888
NM_000215.4:c.3375G>T
CA404762889
NM_000215.4:c.3375G>C
|