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: PA2580144541

Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718139

ClinVar RCV Id: RCV002296590

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Phe2236Leu	CA399013977 NM_001042492.3:c.6706T>C CA399013982 NM_001042492.3:c.6708T>A CA399013983 NM_001042492.3:c.6708T>G