HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000417074.1:p.[Cys348_Asn365delinsValValGlnIleValArgArgGlnProProProTyrGlyAlaGluThrProThr;Asp367_Tyr377delinsThrLeuSerAlaThrProValAlaSerThr] |
CA2499216437
ENST00000487848.6:c.1041del
|