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: PA2829400559

Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1747349

ClinVar RCV Id: RCV002349401

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Phe180Leu	CA371660254 NM_002485.5:c.540C>G CA371660255 NM_002485.5:c.540C>A CA371660266 NM_002485.5:c.538T>C