HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000153.1:p.[His416Thr;Ser418_Glu421delinsAlaSer;Phe423_Ala425delinsSerGly;Val427_Thr431delinsMet;Ser433Ala;Glu435_Glu443delinsAla;Ser445del] |
CA2573052876
NM_000162.5:c.1245del
|