Canonical Allele Identifier: PA645378553
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251824
ClinVar RCV Id: RCV000238342 RCV001181608
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val462Ile
CA034098
NM_000527.5:c.1384G>A