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: PA2573226764

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1362892

ClinVar RCV Id: RCV001934642 RCV003164149

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Asn666Lys	CA371676468 NM_002485.5:c.1998C>G CA371676469 NM_002485.5:c.1998C>A