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: PA2825094588

Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 3064887

ClinVar RCV Id: RCV003989964

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000172.2:p.Trp63Cys	CA367654647 NM_000181.4:c.189G>T CA367654652 NM_000181.4:c.189G>C