HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000473895.2:p.[Ser116Leu;Thr118_Cys128del;Leu130_Cys134del;Val136_Gln137delinsSer;Trp139_Pro145del] |
CA2582342972
ENST00000604348.6:c.346del
|