HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000406559.4:p.[Glu172Ala;Val174Gly;Cys176_Ser180delinsValGlnLeu;Arg182_Ala190delinsGluTrpGlnSerArgGluArgSerHis;Lys192Ser;Arg194_Ser201del] |
CA2576388884
ENST00000434205.8:c.514_515insC
|