Allele Registry

Canonical Allele Identifier: PA2825131889

Gene: NF1 HGNC NCBI

ClinVar RCV:

RCV000576617

RCV000992432

ClinVar Variation:

487463

805083

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Gln1981His	CA399010980 NM_000267.3:c.5943G>C CA399010981 NM_000267.3:c.5943G>T