Canonical Allele Identifier: PA916000983
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252188
ClinVar RCV Id: RCV000238523

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys681Trp
CA10585743
NM_001195798.2:c.2043C>G