HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001195.2:p.[Cys116_Asn130delinsAlaValValAlaGlnIleTyrValMetSerThrLeuLeuArgIle;Pro132_Asp135delinsHisLeuLeu;Thr137_Leu139delinsGlnHisHis;Pro141_Phe145delinsValHisLeuIleHisLeu] |
CA2573134353
NM_001204.7:c.346del
|