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_000518.1:p.Phe823Leu
CA404099114
NM_000527.5:c.2467T>C
CA404099135
NM_000527.5:c.2469T>A
CA404099141
NM_000527.5:c.2469T>G