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: PA2499236485

Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022670

ClinVar RCV Id: RCV001322609 RCV002366186

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Met2361Ile	CA399015545 NM_001042492.3:c.7083G>A CA399015546 NM_001042492.3:c.7083G>C CA399015547 NM_001042492.3:c.7083G>T