Allele Registry

Canonical Allele Identifier: PA191372

Gene: NF1 HGNC NCBI

ClinVar RCV:

RCV000164602

RCV000465877

RCV000681280

RCV002478504

RCV003162692

ClinVar Variation:

185223

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Ser2495Phe	CA191368 NM_001042492.3:c.7484C>T