Canonical Allele Identifier: PA916000238
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251868
ClinVar RCV Id: RCV000238111

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr497Pro
CA10585478
NM_001195798.2:c.1489A>C