This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Asp217_Glu229delinsGluThrAlaLeuTrpProProValAlaLeuThr;Cys231_Val233delinsSerSer;Thr235_Asp239delinsLeuMet;Phe241_Cys243delinsThrAla;Asp245_His250delinsMetAlaAla;Arg253_Tyr259delinsValThrGlyAsn]
CA10585041
NM_001195798.2:c.651_687del