Canonical Allele Identifier: PA2825179111
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2744449
ClinVar RCV Id: RCV003582748

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr389Ala
CA404083872
NM_000527.5:c.1165A>G