HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000479992.1:p.[Arg314del;Pro318_Pro319delinsGlyArg;Pro321_Glu329delinsLeuCysLeuGlnValProAlaAlaMet;Pro331_Leu333delinsLys;Arg336_Leu338delinsAspSerHis;Leu340_Ser342delinsGlyIleCysPro;Ser343_Thr344insValArg] |
CA1039437880
ENST00000610916.4:c.939_940insCC
|