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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2825897112

Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2941683

ClinVar RCV Id: RCV003802705

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139133.1:p.Asn363Lys	CA354413563 NM_001145661.2:c.1089C>G CA354413564 NM_001145661.2:c.1089C>A