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: PA658671912

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 480021

ClinVar RCV Id: RCV000565151 RCV002225668 RCV000792565

ClinVar Variation Id: 1000422

ClinVar RCV Id: RCV001296546

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Asn503Lys	CA371655706 NM_002485.5:c.1509T>G CA371655707 NM_002485.5:c.1509T>A