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: PA645376127

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251227

ClinVar RCV Id: RCV000238446

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys148Ser	CA10584922 NM_000527.5:c.443G>C CA404076472 NM_000527.5:c.442T>A