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: PA2825897004

Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2088409

ClinVar RCV Id: RCV003002899

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139133.1:p.Thr311Ser	CA354404621 NM_001145661.2:c.932C>G CA354404630 NM_001145661.2:c.931A>T