Canonical Allele Identifier: PA915999084
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251481
ClinVar RCV Id: RCV000237878 RCV002429172 RCV003228919
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys276Tyr
CA029759
NM_001195798.2:c.827G>A