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: PA2829833654

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 662489

ClinVar RCV Id: RCV000820145 RCV001759604

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_057502.2:p.Met519Ile	CA411149776 NM_016418.5:c.1557G>T CA411149777 NM_016418.5:c.1557G>A CA411149778 NM_016418.5:c.1557G>C