Allele Registry

Canonical Allele Identifier: PA2580144830

Gene: NF1 HGNC NCBI

ClinVar Allele:

2419006

ClinVar RCV:

RCV003154689

ClinVar Variation:

2445279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Glu2339Lys	CA399015034 NM_001042492.3:c.7015G>A