Allele Registry

Canonical Allele Identifier: PA658801562

Gene: NF1 HGNC NCBI

ClinVar Allele:

530973

ClinVar RCV:

RCV000632333

RCV002307567

RCV002438657

ClinVar Variation:

527461

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Leu933Pro	CA398985673 NM_001042492.3:c.2798T>C