Canonical Allele Identifier: PA645377898
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251600
ClinVar RCV Id: RCV000237709 RCV000775249 RCV002365245 RCV004017548
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys340Tyr
CA10585252
NM_000527.5:c.1019G>A