Canonical Allele Identifier: PA916000729
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161288
ClinVar RCV Id: RCV000210230 RCV000771315 RCV002051681
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val613Ile
CA023595
NM_001195798.2:c.1837G>A