HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000439.1:p.Phe1043_Ter1044insGlnValGlyGlnProLeuMetSerTrpPheLeuGlnLeuSerPheProLeuGlyCysIleGluGlyPheSer |
CA380137196
NM_000448.2:c.3130T>C
|