HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001316432.1:p.Leu48_Ter49insCysGlyThrThrValArgAspTyrThrGlnMetAsnGluLeuGlnArgArgLeuGlyProArgGlyLeuValValLeuGlyPheProCysAsnGlnPheGlyHisGlnLeuProPheSerProValGlyGluArgGlnGluArgArgAspSerGluPheProGlnValArgProAlaTrpTrpTrpValArgAlaGlnLeuHisAlaLeuArgGluValArgGlyGluArgCysGlyGlyAlaProSerLeuArgLeuProAlaGlyGlyProAlaSerSerGlnArgArgArgHisArgAlaTyrAspArgProGlnAlaHisHisLeuValSerGlyValSerGlnArgCysCysLeuGluLeu |
CA352783341
NM_001329503.2:c.147A>T
CA352783343
NM_001329503.2:c.147A>C
|