Canonical Allele Identifier: PA1139685201
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919898
ClinVar RCV Id: RCV001178322 RCV002393393 RCV004006466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser499Cys
CA034538
NM_001195798.2:c.1496C>G