Canonical Allele Identifier: PA645378793
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251867
ClinVar RCV Id: RCV000237543

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly496Val
CA10585477
NM_000527.5:c.1487G>T