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
ENSP00000453696.2:p.[Tyr465_Asp466delinsMet;Val468_Ile469delinsProSer;Arg471_Ala475delinsAlaGluThrSerArg;Asp477_Asp482delinsProThrGlyTrpLeu;Ile484_His485delinsThrGly;Asn487_Trp490delinsThrAlaThrSer;Asp492_Val494delinsGlyProThrLeu]
CA10585436
ENST00000559340.2:c.1392del