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: PA2573290351

Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 1432652

ClinVar RCV Id: RCV001982068

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_115909.1:p.Phe239Leu	CA394188590 NM_032520.5:c.715T>C CA394188595 NM_032520.5:c.717T>A CA394188596 NM_032520.5:c.717T>G