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: PA323414

Gene: NDUFS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 214817

ClinVar RCV Id: RCV000198881 RCV000295911 RCV000329830 RCV000660466 RCV002517243 RCV003947635

ClinVar Variation Id: 2189938

ClinVar RCV Id: RCV002611937

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002486.1:p.Ser5Pro	CA323413 NM_002495.4:c.13T>C CA2580073315 NM_002495.4:c.12_13delinsCC