Canonical Allele Identifier: PA2826212357
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440580
ClinVar RCV Id: RCV000508894

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg142His
CA043915
NM_001195799.2:c.425G>A