HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000493543.1:p.[Thr458_His477delinsGlnTrpAspLysGluLeuAspLeuAspHisLeuGluGlnSerThrArgGluSer;Asp479Met;Ala481_Lys483del;Leu485_Val487delinsTrpGln] |
CA2580077586
ENST00000646891.2:c.1371del
|