Canonical Allele Identifier: PA645510790
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440580
ClinVar RCV Id: RCV000508894

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg183His
CA043915
NM_000527.5:c.548G>A