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: PA2580384037

Gene: NBAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1914318

ClinVar RCV Id: RCV002612715

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056993.2:p.Gly2114Arg	CA345884498 NM_015909.4:c.6340G>C CA345884507 NM_015909.4:c.6340G>A