Canonical Allele Identifier: PA2825179787
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1482524
ClinVar RCV Id: RCV002025201
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu495Arg
CA404086351
NM_000527.5:c.1484T>G