HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000486694.1:p.[Ala171_Gln172insProValLeuLysLysLeuArgGlyThrAlaAspValThrHisAspLeu;Cys173delinsGluMetLysGluGluSerArgGlnMetMetArgGluLys] |
CA16617147
ENST00000630287.2:c.514dup
|