HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000513240.1:p.[Ile516Met;Lys518_Ala530delinsArgAsnValAsnSerArgLysThrHisTyrGlyGlnLeu;Glu532_Leu546delinsLysTyrLeuThrMetThrAsnPheArgMetIleValArgCys] |
CA1139660639
ENST00000697304.1:c.1548del
|