Canonical Allele Identifier: PA2825180975
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 684870
ClinVar RCV Id: RCV000845552 RCV003478524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gln722Arg
CA404094825
NM_000527.5:c.2165A>G