Canonical Allele Identifier: PA645377001
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251398
ClinVar RCV Id: RCV000237828 RCV003581608
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys231Tyr
CA10585084
NM_000527.5:c.692G>A