Canonical Allele Identifier: PA2826212380
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 237874
ClinVar RCV Id: RCV001298448
ClinVar Variation Id: 3073949
ClinVar RCV Id: RCV004012491

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser154Arg
CA10583775
NM_001195799.2:c.462C>A
CA404077553
NM_001195799.2:c.460A>C
CA404077564
NM_001195799.2:c.462C>G