Canonical Allele Identifier: PA2826216378
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36450
ClinVar RCV Id: RCV000030122 RCV000413322 RCV000722113 RCV002408481 RCV003952374
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys225Tyr
CA023408
NM_001195803.2:c.674G>A