Canonical Allele Identifier: PA2825180171
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2501086
ClinVar RCV Id: RCV003226683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg574Pro
CA404089674
NM_000527.5:c.1721G>C