Allele Registry

Canonical Allele Identifier: PA915969279

Gene: NF1 HGNC NCBI

ClinVar RCV:

RCV000792331

ClinVar Variation:

639518

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121619.1:p.Trp223Cys	CA398989739 NM_001128147.3:c.669G>C CA398989743 NM_001128147.3:c.669G>T