HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000486.1:p.[Ile706delinsAsnGlnAlaCysGln;Gly707_Leu708insTyr;Pro709_Pro712delinsValAlaLysGluAsnGlnValSerLeuGluLeu;Gly713_Pro714insPheLeuAspHisLeuVal;Gly716Ala;Pro718_Pro727delinsLeuGluPheGlnAspLeuGlnGluHisLeu;Thr729_Gly734delinsHisLeuGluGluLeuVal] |
CA258613
NM_000495.4:c.2062_2114dup
|