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.[Val294del;Ser296_Asp298delinsLeuProMet;Val300_Ile301delinsProSer;Arg303_Ala307delinsAlaGluThrSerArg;Asp309_Asp314delinsProThrGlyTrpLeu;Ile316_His317delinsThrGly;Asn319_Trp322delinsThrAlaThrSer;Thr323_Asp324insGlyPro]
CA2739291177
NM_001195800.2:c.880del