Canonical Allele Identifier: PA2826212132
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430746
ClinVar RCV Id: RCV000495891

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys39Phe
CA404074745
NM_001195799.2:c.116G>T