HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000375808.4:p.[Arg683_Arg690delinsProValCysProTrpGlyGlnAla;Lys692_Glu712delinsGluAlaAlaProLeuAspProGlyAlaProHisArgCysGlnProGlnProAspArgGlyArg] |
CA2838990430
ENST00000391944.8:c.2047dup
|