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: PA2828236479

Gene: RFX8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3153525

ClinVar RCV Id: RCV004438905

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001354439.1:p.Thr43Ser	CA347974421 NM_001367510.1:c.128C>G CA347974424 NM_001367510.1:c.127A>T