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: PA2573189304

Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693177

ClinVar RCV Id: RCV002260434 RCV002260435 RCV002260437 RCV002260436

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243143.1:p.Phe248Leu	CA406053346 NM_001256214.2:c.744T>G CA406053347 NM_001256214.2:c.744T>A CA406053352 NM_001256214.2:c.742T>C