HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000516095.1:p.[Ser177_Ala183delinsLysTrpThrGlnLeuProGly;Ala185Ser;Ser187_Leu188delinsPhePhe;Asp190_Glu192del;Thr194_Phe204delinsLeu] |
CA2578796152
ENST00000705237.1:c.522dup
|