Canonical Allele Identifier: PA2826212299
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_001182728.1:p.Asp127Glu
CA043750
NM_001195799.2:c.381C>A
CA404076865
NM_001195799.2:c.381C>G