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: PA2499242952

Gene: ATP1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 999211

ClinVar RCV Id: RCV001295176

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243143.1:p.Asn585Lys	CA406045745 NM_001256214.2:c.1755C>G CA406045747 NM_001256214.2:c.1755C>A