Canonical Allele Identifier: PA2825208464
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1329999
ClinVar RCV Id: RCV001801016

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys116Tyr
CA404076267
NM_000527.5:c.347G>A