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.[Arg471_Ala475delinsGluThrSerArgPro;Asp477Thr;Leu479_Asp482delinsTrpLeu;Ile484_His485delinsThrGly;Asn487_Trp490delinsThrAlaThrSer;Asp492_Val494delinsGlyProThr;Gly496_Val498delinsSerTrpAlaLeu;Val500delinsLeuLeu]
CA2499225319
NM_001195798.2:c.1411del