Canonical Allele Identifier: PA645380441
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252241

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu716Lys
CA10585792
NM_000527.5:c.2146G>A