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
ENSP00000454071.1:p.[Val462del;Ser464_Asp466delinsLeuProMet;Val468_Ile469delinsProSer;Arg471_Ala475delinsAlaGluThrSerArg;Asp477_Asp482delinsProThrGlyTrpLeu;Ile484_His485delinsThrGly;Asn487_Trp490delinsThrAlaThrSer;Thr491_Asp492insGlyPro]
CA2739291177
ENST00000558518.6:c.1384del