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: PA2499229217

Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 1063838

ClinVar RCV Id: RCV001373719

ClinVar Variation Id: 2199571

ClinVar RCV Id: RCV002625001

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000161.2:p.Asp671Glu	CA4980444 NM_000170.3:c.2013T>A CA372881882 NM_000170.3:c.2013T>G