Canonical Allele Identifier: PA2825179570
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773516
ClinVar RCV Id: RCV003582115

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp457His
CA404085595
NM_000527.5:c.1369G>C