Canonical Allele Identifier: PA2825181237
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3075244
ClinVar RCV Id: RCV004015770

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg788Lys
CA404096834
NM_000527.5:c.2363G>A