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_001182728.1:p.[Val421del;Ser423_Asp425delinsLeuProMet;Val427_Ile428delinsProSer;Arg430_Ala434delinsAlaGluThrSerArg;Asp436_Asp441delinsProThrGlyTrpLeu;Ile443_His444delinsThrGly;Asn446_Trp449delinsThrAlaThrSer;Thr450_Asp451insGlyPro]
CA2739291177
NM_001195799.2:c.1261del