HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001356835.1:p.[Leu180_Met198delinsAlaArgAlaValGluValProGlnLysLeuGlnLeuProGlyHisAlaArgArgGlu;Glu200Arg;Ser202_Val204del;Lys206_Glu212delinsAspGlyGlyProCysArgMet] |
CA2397855871
NM_001369906.1:c.538_548del
|