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: PA658801329

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 497591

ClinVar RCV Id: RCV000595586 RCV002530992

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Met841Ile	CA401326063 NM_000152.5:c.2523G>A CA401326065 NM_000152.5:c.2523G>C CA401326066 NM_000152.5:c.2523G>T