Canonical Allele Identifier: PA645375500
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226308
ClinVar RCV Id: RCV000211622 RCV002426990
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys75Tyr
CA10576270
NM_000527.5:c.224G>A