Allele Registry

Canonical Allele Identifier: PA2825127445

Gene: NF1 HGNC NCBI

ClinVar Allele:

467718

ClinVar RCV:

RCV000527707

RCV000764107

RCV001020116

RCV001574886

RCV002448634

ClinVar Variation:

457643

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Ser1124Asn	CA8486159 NM_000267.3:c.3371G>A