Allele Registry

Canonical Allele Identifier: PA658682489

Gene: NF1 HGNC NCBI

ClinVar RCV:

RCV000576617

RCV000992432

ClinVar Variation:

487463

805083

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Gln2002His	CA399010980 NM_001042492.3:c.6006G>C CA399010981 NM_001042492.3:c.6006G>T