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: PA2573176596

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1381370

ClinVar RCV Id: RCV001895322

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Met318Ile	CA401364280 NM_001079804.3:c.954G>A CA401364282 NM_001079804.3:c.954G>T CA401364284 NM_001079804.3:c.954G>C