HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000558.2:p.[Val109del;Pro111_Trp128delinsSerSerSerThrHisLeuTyrLysLeuGlyValArgLeuArgAspArgGly;Asp130Leu;Lys132_Ser138delinsArgTrpGluAlaGlnGlyGluGluGlu] |
CA2648593779
NM_000567.3:c.325_326insC
|