HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001182729.1:p.[Val227del;Ser229_Tyr232delinsLeuHisArg;Phe234_Val241delinsProLeuLeuHisGlnProAla;Lys243_Leu246delinsGlyGlnGluAsp;Arg248_Ser249delinsAlaGlyPro;Tyr251_Ile255delinsArgValHisGlnProHis;Asn257Gln] |
CA16609812
NM_001195800.2:c.680_681del
|