Allele Registry

Canonical Allele Identifier: PA193350

Gene: NF1 HGNC NCBI

ClinVar Allele:

184705

ClinVar RCV:

RCV000165418

RCV000233267

RCV000681183

RCV001818379

RCV002354408

RCV003491898

ClinVar Variation:

185913

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Gln1948Leu	CA193347 NM_000267.3:c.5843A>T