HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000452137.1:p.[Glu126Lys;Tyr128_Leu140delinsThrValAlaTrpAlaCysPheProAlaSerAlaHisSer;Val142_Ile146delinsPheLeuThrAla] |
CA2624007164
ENST00000557344.5:c.376del
|