HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000403536.2:p.[Val165_Trp174delinsArgProHisLeuLeuGlnProHisLeuLeu;Glu176_Glu190delinsGlyAlaAspGluValGlnValLeuArgHisHisHisHis;Arg192_Pro193del] |
CA9043628
ENST00000447102.8:c.491dup
|