Allele Registry

Canonical Allele Identifier: PA2825133044

Gene: NF1 HGNC NCBI

ClinVar Allele:

420824

ClinVar RCV:

RCV000492274

RCV000735821

ClinVar Variation:

428947

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Lys2252Arg	CA399014223 NM_000267.3:c.6755A>G