HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_005893.1:p.[Glu171del;Gln173_Glu178delinsLysThrLeu;Pro180Ser;Pro182_Asp193delinsGlnAlaSerSerProArgAlaIlePheGlnArgPro;Gln195_Met200delinsProLeuAlaThr] |
CA2629117548
NM_005902.4:c.482_510dup
|