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: PA2829865838

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1501455

ClinVar RCV Id: RCV002017480

ClinVar Variation Id: 2663242

ClinVar RCV Id: RCV003442430

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_057502.2:p.Leu97Phe	CA411153229 NM_016418.5:c.291G>C CA411153231 NM_016418.5:c.291G>T