HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001182729.1:p.[Leu343del;Arg345_Lys350delinsTyrSerGlyArgThrAla;Arg352_Gly361delinsSerGlnGlyProSerTrpTrpIleLeu;Tyr364_Trp365delinsAlaSerCys;Asp367_Trp368delinsGlyLeuThr;Thr370delinsGluLeu;Ala372Pro] |
CA2499225322
NM_001195800.2:c.1027_1028dup
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