HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[His117_Asp118delinsThrMet;Lys120_Phe126delinsSerAlaSerLeuGlySerSerSer;Cys128_Glu140delinsThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser142Arg;Pro144_Leu146delinsSer] |
CA2497030146
NM_000527.5:c.349del
|