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: PA2829480088

Gene: PAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1424374

ClinVar RCV Id: RCV001921603

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003980.3:p.Gln39His	CA5650651 NM_003989.5:c.117G>T CA378257561 NM_003989.5:c.117G>C