Canonical Allele Identifier: PA658743135
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 496023
ClinVar RCV Id: RCV000587603 RCV001829627
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly758Ala
CA039308
NM_000527.5:c.2273G>C