Canonical Allele Identifier: PA2825178984
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2696786
ClinVar RCV Id: RCV003582186

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Tyr375Asp
CA404083558
NM_000527.5:c.1123T>G