HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000469819.2:p.[Arg190Gly;Arg192_Arg193delinsAlaAlaGlu;Ala195Val;Arg198_Asn199delinsThr;Asp201_Leu205delinsThrThrValArgSer;Arg209_His214delinsValAlaAlaValCys;Val216_Arg217delinsArgSer;Ser219delinsArgArg] |
CA9310770
ENST00000597765.2:c.568del
|