Canonical Allele Identifier: PA915998466
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251261
ClinVar RCV Id: RCV000238338 RCV001238374
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp168Glu
CA043750
NM_001195798.2:c.504C>A
CA404076865
NM_001195798.2:c.504C>G