Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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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: PA2825460703

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 4036

ClinVar RCV Id: RCV000004251 RCV000578430 RCV000728952

ClinVar Variation Id: 1324438

ClinVar RCV Id: RCV001781143

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Gly293Arg	CA116622 NM_001079803.3:c.877G>A CA401363876 NM_001079803.3:c.877G>C