Canonical Allele Identifier: PA1139685253
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 924425
ClinVar RCV Id: RCV001185716
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu514Lys
CA404086545
NM_001195798.2:c.1540G>A