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_001182729.1:p.[Lys562_Ser565delinsHisSerArgLysAsp;Val568_His572delinsHisAsnHisPro;Thr574_Thr575delinsCysSer;Pro577_Val578delinsHisLeu;Asp580_Leu584delinsAlaAlaTrpGlyHis;Gly586Trp;Thr588_Pro589delinsHisHis;Leu591_Val594del]
CA10585802
NM_001195800.2:c.1683_1693del