Canonical Allele Identifier: PA2741841743
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2828347
ClinVar RCV Id: RCV003741922

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys803Ser
CA404098400
NM_001195798.2:c.2407T>A
CA404098407
NM_001195798.2:c.2408G>C