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: PA2825334671

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 962675

ClinVar RCV Id: RCV001236570 RCV002447181 RCV003473810

ClinVar Variation Id: 1764804

ClinVar RCV Id: RCV002373770

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Met212Ile	CA371658230 NM_001024688.3:c.636G>T CA371658232 NM_001024688.3:c.636G>C CA371658234 NM_001024688.3:c.636G>A