Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2826377087

Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1015218

ClinVar RCV Id: RCV001314047

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243142.1:p.Asn639Lys	CA406045003 NM_001256213.2:c.1917C>G CA406045004 NM_001256213.2:c.1917C>A