Canonical Allele Identifier: PA2499241786
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1038354
ClinVar RCV Id: RCV001341649

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly593Cys
CA036635
NM_001195798.2:c.1777G>T