Allele Registry

Canonical Allele Identifier: PA2825129086

Gene: NF1 HGNC NCBI

ClinVar Allele:

235689

ClinVar RCV:

RCV000222235

RCV000632497

RCV000764112

RCV001030575

RCV001731450

RCV002478807

ClinVar Variation:

232946

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Ser1449Asn	CA10580315 NM_000267.3:c.4346G>A