Canonical Allele Identifier: PA2825179880
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 924425
ClinVar RCV Id: RCV001185716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu514Lys
CA404086545
NM_000527.5:c.1540G>A