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: PA915964576

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 283455

ClinVar RCV Id: RCV000304646 RCV001855124

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Phe414Leu	CA10604498 NM_001079804.3:c.1240T>C CA401365256 NM_001079804.3:c.1242C>A CA401365257 NM_001079804.3:c.1242C>G