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: PA2826439690

Gene: ATP5F1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2769502

ClinVar RCV Id: RCV003578768

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001244263.1:p.Thr250Ser	CA402355574 NM_001257334.2:c.749C>G CA402355576 NM_001257334.2:c.748A>T