Allele Registry

Canonical Allele Identifier: PA658682577

Gene: NF1 HGNC NCBI

ClinVar Allele:

478348

ClinVar RCV:

RCV001040889

RCV002315758

RCV002491121

ClinVar Variation:

480169

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Arg2594Cys	CA8487663 NM_001042492.3:c.7780C>T