HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000496663.1:p.[His462_Gln476delinsThrMetLysAspThrHisValProAlaSerMetGluThrValLeu;Asp478_Arg479delinsGlyIle;Glu481_Gly489delinsLysArgProPheThrSerSerAlaGlnGlu] |
CA319634
ENST00000644074.1:c.1381_1382dup
|