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.Ser318Arg
CA404086148
NM_001195800.2:c.952A>C
CA404086162
NM_001195800.2:c.954C>A
CA404086164
NM_001195800.2:c.954C>G