Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2826214406

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403629

ClinVar RCV Id: RCV000454527 RCV002223839

ClinVar Variation Id: 440556

ClinVar RCV Id: RCV000508944

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Asp100Glu	CA16609802 NM_001195800.2:c.300C>A CA404075813 NM_001195800.2:c.300C>G