Allele Registry

Canonical Allele Identifier: PA219472

Gene: NF1 HGNC NCBI

ClinVar Allele:

79212

ClinVar RCV:

RCV000059173

RCV000571726

RCV000632503

RCV002453377

ClinVar Variation:

68321

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Leu844Phe	CA219469 NM_000267.3:c.2530C>T