Allele Registry

Canonical Allele Identifier: PA645387209

Gene: NF1 HGNC NCBI

ClinVar RCV:

RCV000221420

RCV000546921

RCV000681085

RCV002327095

RCV003114391

RCV003387812

RCV004547559

ClinVar Variation:

233847

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Thr1648Ile	CA8487120 NM_001042492.3:c.4943C>T