HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000075.1:p.[Cys401_Ser410delinsValIleMetArgThrValSerThrGlnAla;Gly413_Glu414delinsValAsnCys;Pro416Thr;Pro419Leu;Gly421_Gln430delinsTrpGluSerThrValGlnCysGly] |
CA2695233688
NM_000084.5:c.1200del
|