HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000472600.2:p.[Arg505_Cys512delinsProProProProGlyCysVal;Lys514_Tyr517delinsProGluGlyCys;Leu520_Glu534delinsAlaThrAlaAlaAlaGlyAlaAlaHisGlyAlaGlyGluArgArgGly] |
CA2842066507
ENST00000601098.6:c.1513dup
|