HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000501943.1:p.[Phe158_Asp160del;Arg162_Arg166delinsMetThr;Arg169_Lys171delinsLeu;Phe173_Thr178delinsValGlu;Phe180_Thr188delinsGluGluGlyLysAlaSerLeu] |
CA512318681
ENST00000675419.1:c.474del
|