Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2826211254

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440540

ClinVar RCV Id: RCV000508969 RCV001857282

ClinVar Variation Id: 921285

ClinVar RCV Id: RCV001180627

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys27Arg	CA404074603 NM_001195798.2:c.79T>C CA913188962 NM_001195798.2:c.79_81delinsCGT