HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000474582.1:p.[Val136_Arg139delinsGlyProCysAla;Glu141_Arg142delinsGlyPro;Val144Asp;Pro146delinsTrpCys;Val148_Gly151delinsLeuSerArgTrp;Thr153_Leu164delinsArgProMetArgThrTrpProSer] |
CA2062448178
ENST00000540016.5:c.402_406dup
|