HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000403536.2:p.[Val165_Trp174delinsGlyProHisLeuLeuGlnProHisLeuLeu;Glu176_Glu190delinsGlyAlaAspGluValGlnValLeuArgHisHisHisHis;Arg192_Pro194del] |
CA645614606
ENST00000447102.8:c.493dup
|