Canonical Allele Identifier: PA250722
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36454

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala431Pro
CA023446
NM_000527.5:c.1291G>C