Canonical Allele Identifier: PA2499241802
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1171241
ClinVar RCV Id: RCV001524196

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser630Thr
CA404092673
NM_001195798.2:c.1889G>C