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: PA2825065794

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1398860

ClinVar RCV Id: RCV001915280

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Phe490Leu	CA401366885 NM_000152.5:c.1468T>C CA401366895 NM_000152.5:c.1470C>A CA401366897 NM_000152.5:c.1470C>G