Canonical Allele Identifier: PA645379522
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252029
ClinVar RCV Id: RCV000237727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg595Leu
CA10585609
NM_000527.5:c.1784G>T