Allele Registry

Canonical Allele Identifier: PA2825133372

Gene: NF1 HGNC NCBI

ClinVar Allele:

2419006

ClinVar RCV:

RCV003154689

ClinVar Variation:

2445279

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Glu2318Lys	CA399015034 NM_000267.3:c.6952G>A