Canonical Allele Identifier: PA2825181275
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2099074
ClinVar RCV Id: RCV003022818

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu794His
CA404096896
NM_000527.5:c.2381T>A