Canonical Allele Identifier: PA2825179761
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3072613
ClinVar RCV Id: RCV004013635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp490Ser
CA404086238
NM_000527.5:c.1469G>C