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_000518.1:p.[Lys730_Ser733delinsHisSerArgLysAsp;Val736_His740delinsHisAsnHisPro;Thr742_Thr743delinsCysSer;Pro745_Val746delinsHisLeu;Asp748_Leu752delinsAlaAlaTrpGlyHis;Gly754Trp;Thr756_Pro757delinsHisHis;Leu759_Val762del]
CA10585802
NM_000527.5:c.2187_2197del