HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000366977.2:p.[Arg532_Lys541delinsAlaGluAlaGluArgHisAlaGlyGlnThr;His543_Glu561delinsProAlaAlaHisGlnValProAlaAlaAlaGlnValGlyAlaGluGluAspArgGly] |
CA2642977560
ENST00000377748.6:c.1594_1595del
|