Allele Registry

Canonical Allele Identifier: PA195492

Gene: NF1 HGNC NCBI

ClinVar Allele:

184586

ClinVar RCV:

RCV000166293

RCV000232549

RCV001564267

RCV002426798

ClinVar Variation:

186662

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Asn730Tyr	CA195489 NM_000267.3:c.2188A>T