HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001091.1:p.[Ala349_Phe354delinsProAlaAspValAspHis;Gln356_Phe377delinsAlaGlyValArgArgGlyArgProPheHisArgProProGlnMetLeuLeuAspThrLeuHisLeu] |
CA2573132002
NM_001100.4:c.1044_1060del
|