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.[Ser564_Val568delinsGlnLeuHisSer;Thr570_His572delinsLysAsp;Thr574_Val578delinsAlaHisAsnHis;Asp580_Thr581delinsThrCys;Arg583_Leu584insHis;Gly586Ala;Thr588delinsTrpGlyHis;Gly590_Thr593delinsTrpAlaHisHis]
CA2573156040
NM_001195800.2:c.1689dup