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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA645375912

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251189

ClinVar RCV Id: RCV000237938

ClinVar Variation Id: 1321222

ClinVar RCV Id: RCV002227549

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Phe126Leu	CA10584888 NM_000527.5:c.376T>C CA404076320 NM_000527.5:c.378C>A CA404076321 NM_000527.5:c.378C>G