Allele Registry

Canonical Allele Identifier: PA348020

Gene: NF1 HGNC NCBI

ClinVar Allele:

222633

ClinVar RCV:

RCV000203720

RCV000571589

RCV000681043

RCV000764115

RCV002317738

ClinVar Variation:

220184

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Arg2452Cys	CA348018 NM_001042492.3:c.7354C>T