HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001372217.1:p.[Asn487_Phe509delinsMetAlaArgLeuAsnValArgLeuThrThrMetTrpAlaArgLeuLeuProIleLeuThrLeuHisLeu;Glu511_His514delinsSerLysSerIle;His516Thr] |
CA2670658670
NM_001385288.1:c.1460del
|