Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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: PA916000022

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251794

ClinVar RCV Id: RCV000237931 RCV001731460 RCV001804976

ClinVar Variation Id: 661768

ClinVar RCV Id: RCV000819259 RCV002487822

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp445Glu	CA033606 NM_001195798.2:c.1335C>A CA404085273 NM_001195798.2:c.1335C>G