Canonical Allele Identifier: PA2825180957
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2165924
ClinVar RCV Id: RCV003084619

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu714Ala
CA404094732
NM_000527.5:c.2141A>C