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: PA891845733

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 580157

ClinVar RCV Id: RCV000703619

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Phe728Leu	CA401370649 NM_000152.5:c.2182T>C CA401370654 NM_000152.5:c.2184C>G CA401370655 NM_000152.5:c.2184C>A