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_001182727.1:p.Glu229_Glu258del
CA10585077
NM_001195798.2:c.681_682insTGAG
CA2499225313
NM_001195798.2:c.678_681dup