Canonical Allele Identifier: PA100661
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252233
ClinVar RCV Id: RCV000237685

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu714Lys
CA10585786
NM_000527.5:c.2140G>A