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: PA2827936542

Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 451640

ClinVar RCV Id: RCV000523438 RCV002464024

ClinVar Variation Id: 2921032

ClinVar RCV Id: RCV003740508

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341729.1:p.Leu144Pro	CA367401995 NM_001354800.1:c.431T>C CA2695202965 NM_001354800.1:c.431_432delinsCT