Canonical Allele Identifier: PA2826212442
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440588
ClinVar RCV Id: RCV000508690

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg174His
CA044194
NM_001195799.2:c.521G>A