HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000475788.1:p.[His159_Asn164delinsIleThrGlyMetValMetArgLeuPro;Thr166_Thr167delinsGlnValAlaCysLeuGlnLeuAlaLeuAspCys] |
CA2680958610
ENST00000607000.1:c.475del
|