HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514472.1:p.[Ser18_Arg29delinsGlnLeuAspGlnThrAsnPheGluGluArgIle;Arg31_Gln39delinsThrAlaProGlyIleValArgHis;Ser42_Ala46delinsAsnProPheCys] |
CA327485
ENST00000699604.1:c.50dup
|