HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000478499.1:p.[Asp192_Tyr195delinsValGluAsnIleSerPro;Phe196_Thr197insArg;Leu198_Gln205delinsArgProAlaPheLysLysLysIleVal;Asn208_Cys209delinsSerMetLysMetValLeu] |
CA497713915
ENST00000510385.5:c.575del
|