HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_476515.2:p.Pro346_Ter347insLeuLeuArgSerProValThrMetProLeuGlnProAlaProCysHisCysTrpAlaLysLysProSerLeuGlyValGlySerArgLeuLeuSerHisArgLysArg |
CA380222608
NM_057174.3:c.1040G>T
|