HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000499852.1:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu] |
CA2842717615
ENST00000673284.1:c.486dup
|