HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000509845.1:p.[Pro467_Ser473delinsHisSerPheProGlnCysPro;Gly475_Ser477delinsGluLeuPro;Thr479_Cys495delinsGlnAlaAlaGlyGlyAlaVal] |
CA434433831
ENST00000693031.1:c.1400del
|