Canonical Allele Identifier: PA2826212436
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926960
ClinVar RCV Id: RCV001189870

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser172Arg
CA044176
NM_001195799.2:c.516C>A
CA404078095
NM_001195799.2:c.514A>C
CA404078119
NM_001195799.2:c.516C>G