Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Canonical Allele Identifier: PA2826217055

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252021

ClinVar RCV Id: RCV000238260 RCV000775076 RCV002411089

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Ser460Arg	CA036457 NM_001195803.2:c.1380C>G CA404089730 NM_001195803.2:c.1378A>C CA404089736 NM_001195803.2:c.1380C>A