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.Ser744Arg
CA305308379
NM_001195799.2:c.2232T>G
CA404096790
NM_001195799.2:c.2230A>C
CA404096802
NM_001195799.2:c.2232T>A