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: PA2573182562

Gene: EGR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1462789

ClinVar RCV Id: RCV001994908

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129650.1:p.Ser428Arg	CA5517162 NM_001136178.1:c.1284C>A CA377027180 NM_001136178.1:c.1284C>G CA377027186 NM_001136178.1:c.1282A>C