Canonical Allele Identifier: PA645379230
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251996
ClinVar RCV Id: RCV000237135 RCV000791382 RCV001256078 RCV002287397 RCV002411086 RCV002461041 RCV003401206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg574His
CA036197
NM_000527.5:c.1721G>A