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: PA645376908

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375790

ClinVar RCV Id: RCV000417335

ClinVar Variation Id: 928775

ClinVar RCV Id: RCV001193183 RCV001863055

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp224Glu	CA16602307 NM_000527.5:c.672C>A CA404078393 NM_000527.5:c.672C>G