HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000502031.1:p.[His117del;Val119_Phe120del;Val122_Met123delinsCys;Ser125_Asp136delinsGlnCysTyrGlyLeuCysPheArgGlyCys;Glu138_Thr145delinsAsn] |
CA277002
ENST00000675331.1:c.347dup
|