Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA916000980

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252184

ClinVar RCV Id: RCV000237441

ClinVar Variation Id: 252187

ClinVar RCV Id: RCV000237573

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys681Ser	CA10585739 NM_001195798.2:c.2041T>A CA10585742 NM_001195798.2:c.2042G>C