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: PA915954284

Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 649820

ClinVar RCV Id: RCV000804843 RCV002352377

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005735.1:p.Gly429Arg	CA411096875 NM_001005735.2:c.1285G>C CA411096877 NM_001005735.2:c.1285G>A