HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000369325.3:p.[Thr533_Asp537delinsProAspThrVal;Thr540Glu;Leu542Cys;Pro544_Thr562delinsAlaLeuLeuGluGluIleThrGluMetArgGluArgTrpThrHisValGluProGln] |
CA658825120
ENST00000379989.6:c.1596del
|