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: PA2826816631

Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 578276

ClinVar RCV Id: RCV000701237 RCV001391318 RCV002534390

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278929.1:p.Met349Ile	CA3523464 NM_001292000.1:c.1047G>T CA361849730 NM_001292000.1:c.1047G>C CA361849731 NM_001292000.1:c.1047G>A