HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000421.1:p.[His117del;Val119_Phe120del;Val122_Met123delinsCys;Ser125_Asp136delinsGlnCysTyrGlyLeuCysPheArgGlyCys;Glu138_Thr145delinsAsn] |
CA277002
NM_000430.4:c.347dup
|