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: PA299623

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 182724

ClinVar RCV Id: RCV000160791 RCV001800471 RCV000771478

ClinVar Variation Id: 480060

ClinVar RCV Id: RCV000563554 RCV000796112

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Phe567Leu	CA299621 NM_002485.5:c.1701C>G CA371655286 NM_002485.5:c.1701C>A CA371655291 NM_002485.5:c.1699T>C