HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000366538.1:p.Leu575_Ter576insAsnTyrTrpGlyLeuArgThrAlaCysGlyAspProGlySerAlaLeuSerProProThrLeuSerProCysSerAlaProSerProLys |
CA2739270520
ENST00000377321.5:c.1726_1727del
|