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: PA2830393717

Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426373

ClinVar RCV Id: RCV000489141

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861966.1:p.Phe120Leu	CA411142186 NM_181828.3:c.358T>C CA411142191 NM_181828.3:c.360T>A CA411142192 NM_181828.3:c.360T>G