HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000496052.2:p.[His507_Gln521delinsThrMetLysAspThrHisValProAlaSerMetGluThrValLeu;Asp523_Arg524delinsGlyIle;Glu526_Gly534delinsLysArgProPheThrSerSerAlaGlnGlu] |
CA319634
ENST00000642322.2:c.1516_1517dup
|