Canonical Allele Identifier: PA645377004
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251396

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys231Arg
CA10585083
NM_000527.5:c.691T>C