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: PA2573290272

Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 1450342

ClinVar RCV Id: RCV001990099

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_115909.1:p.Phe96Leu	CA276656635 NM_032520.5:c.288C>A CA394186972 NM_032520.5:c.286T>C CA394186980 NM_032520.5:c.288C>G