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: PA2825129696

Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1317162

ClinVar RCV Id: RCV001759034 RCV003598054

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Phe1572Leu	CA399001268 NM_000267.3:c.4714T>C CA399001272 NM_000267.3:c.4716C>A CA399001273 NM_000267.3:c.4716C>G