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: PA915992249

Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 551282

ClinVar RCV Id: RCV000666296

ClinVar Variation Id: 2506300

ClinVar RCV Id: RCV003236531

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165459.1:p.Met1Ile	CA110791895 NM_001171988.2:c.3G>A CA358785213 NM_001171988.2:c.3G>T CA358785214 NM_001171988.2:c.3G>C