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: PA2826216539

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251732

ClinVar RCV Id: RCV000238099 RCV002347940

ClinVar Variation Id: 565474

ClinVar RCV Id: RCV000685044

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Phe276Leu	CA10585355 NM_001195803.2:c.826T>C CA404084694 NM_001195803.2:c.828C>G CA404084695 NM_001195803.2:c.828C>A