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.[Phe653_Cys657delinsValTyrLeuArgLeu;Asp659del;Met661_Leu663delinsArgHisAla;Arg665_Thr672delinsGlyGlnGlyHis;Ala674del;Ala676_Gln681delinsLeuProHisArgGly]
CA16602345
NM_001195799.2:c.1955dup