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: PA325092

Gene: NDUFS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 214810

ClinVar RCV Id: RCV000335188 RCV000960853 RCV001154576 RCV001154575

ClinVar Variation Id: 419348

ClinVar RCV Id: RCV000478751

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002486.1:p.Val4Leu	CA325091 NM_002495.4:c.10G>C CA16618208 NM_002495.4:c.10_12delinsCTC CA359718936 NM_002495.4:c.10G>T