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: PA2830397669

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 435976

ClinVar RCV Id: RCV000499490 RCV000703302 RCV002404314

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861967.1:p.Glu504Asp	CA411150123 NM_181829.3:c.1512A>C CA411150124 NM_181829.3:c.1512A>T