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: PA645481770

Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 281299

ClinVar RCV Id: RCV000268128 RCV000631070 RCV003114442

ClinVar Variation Id: 325787

ClinVar RCV Id: RCV000398587

ClinVar Variation Id: 2062189

ClinVar RCV Id: RCV002953248

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Met440Ile	CA8815260 NM_000152.5:c.1320G>T CA10650363 NM_000152.5:c.1320G>C CA401365421 NM_000152.5:c.1320G>A