HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000255030.5:p.[Val109del;Pro111_Trp128delinsSerSerSerThrHisLeuTyrLysLeuGlyValArgLeuArgAspArgGly;Asp130Leu;Lys132_Ser138delinsArgTrpGluAlaGlnGlyGluGluGlu] |
CA2648593779
ENST00000255030.9:c.325_326insC
|