HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000364802.5:p.[Glu514_Ala522delinsGlyAspArgAlaHisGlyAlaGlyGlyGly;Lys524_Gln532delinsValGlnSerGlyGlyArgGlyAlaAla;Arg535Gly;Ala538_Glu543delinsGlnGluArgProGly] |
CA1087483870
ENST00000375651.7:c.1540dup
|