Canonical Allele Identifier: PA645379566
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252038

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp601His
CA10585619
NM_000527.5:c.1801G>C