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: PA915997554

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 654230

ClinVar RCV Id: RCV000810146 RCV003344068

ClinVar Variation Id: 820608

ClinVar RCV Id: RCV001014243 RCV002549404

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Phe685Leu	CA4802627 NM_002485.5:c.2053T>C CA371676347 NM_002485.5:c.2055C>G CA371676348 NM_002485.5:c.2055C>A