Canonical Allele Identifier: PA2826216205
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2682003
ClinVar RCV Id: RCV003477295

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg173Thr
CA404080998
NM_001195803.2:c.518G>C