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: PA2825133530

Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022670

ClinVar RCV Id: RCV001322609 RCV002366186

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Met2340Ile	CA399015545 NM_000267.3:c.7020G>A CA399015546 NM_000267.3:c.7020G>C CA399015547 NM_000267.3:c.7020G>T