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: PA2741831485

Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2703848

ClinVar RCV Id: RCV003496196

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Ser2256Arg	CA399014112 NM_001042492.3:c.6766A>C CA399014117 NM_001042492.3:c.6768C>A CA399014118 NM_001042492.3:c.6768C>G