Canonical Allele Identifier: PA2825179804
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773517
ClinVar RCV Id: RCV003582116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val498Leu
CA404086398
NM_000527.5:c.1492G>C