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: PA2829400121

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1407831

ClinVar RCV Id: RCV001937888

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Phe106Leu	CA371662255 NM_002485.5:c.318C>G CA371662256 NM_002485.5:c.318C>A CA371662265 NM_002485.5:c.316T>C