HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000501174.1:p.[Thr533_Asp537delinsProAspThrVal;Thr540Glu;Leu542Cys;Pro544_Thr562delinsAlaLeuLeuGluGluIleThrGluMetArgGluArgTrpThrHisValGluProGln] |
CA658825120
ENST00000674046.1:c.1596del
|