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: PA658671913

Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 460823

ClinVar RCV Id: RCV000556591 RCV000572483

ClinVar Variation Id: 863514

ClinVar RCV Id: RCV001070499

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009125.1:p.Asn105Lys	CA411090172 NM_007194.4:c.315T>G CA411090174 NM_007194.4:c.315T>A