Allele Registry

Canonical Allele Identifier: PA2825123243

Gene: NF1 HGNC NCBI

ClinVar Allele:

645448

ClinVar RCV:

RCV000795319

RCV002424817

RCV002469291

ClinVar Variation:

641956

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Gln83Pro	CA398989656 NM_000267.3:c.248A>C