Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2826093527

Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2144057

ClinVar RCV Id: RCV003053238 RCV003062869

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166969.1:p.Gln698His	CA9226200 NM_001173498.2:c.2094G>C CA404243411 NM_001173498.2:c.2094G>T