Canonical Allele Identifier: PA100743
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251840
ClinVar RCV Id: RCV000237101 RCV003581625
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu479Pro
CA10585450
NM_000527.5:c.1436T>C