HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000477378.1:p.[Glu349_Ala357delinsGlyAspArgAlaHisGlyAlaGlyGlyGly;Lys359_Gln367delinsValGlnSerGlyGlyArgGlyAlaAla;Arg370Gly;Ala373_Glu378delinsGlnGluArgProGly] |
CA1087483870
ENST00000608703.1:c.1045dup
|