Canonical Allele Identifier: PA2741841652
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2501086
ClinVar RCV Id: RCV003226683

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg574Pro
CA404089674
NM_001195798.2:c.1721G>C