HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000439.2:p.Phe1043_Ter1044insGluValGlyGlnProLeuMetSerTrpPheLeuGlnLeuSerPheProLeuGlyCysIleGluGlyPheSer |
CA380137197
NM_000448.3:c.3130T>G
|