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: PA2827474240

Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 234137

ClinVar RCV Id: RCV000216282 RCV000536362

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Met46Ile	CA10581111 NM_001349956.2:c.138G>A CA411091116 NM_001349956.2:c.138G>T CA411091128 NM_001349956.2:c.138G>C