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: PA2826213117

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926524

ClinVar RCV Id: RCV001189130 RCV003396798 RCV004010342

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Ser380Arg	CA033349 NM_001195799.2:c.1140C>A CA404084812 NM_001195799.2:c.1138A>C CA404084822 NM_001195799.2:c.1140C>G