HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000439.1:p.Phe1043_Ter1044insLysValGlyGlnProLeuMetSerTrpPheLeuGlnLeuSerPheProLeuGlyCysIleGluGlyPheSer |
CA380137195
NM_000448.2:c.3130T>A
|