HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000494532.1:p.[Phe246Ser;Lys247_Asp248insThrMet;Gly250_Ile259delinsValAlaSerSerLysValAlaSerProGlu;Arg261Ser;Leu263_Thr266delinsGlu;Met268_Val275del] |
CA2665163036
ENST00000643672.1:c.737del
|