Allele Registry

Canonical Allele Identifier: PA276048

Gene: NF1 HGNC NCBI

ClinVar Allele:

205418

ClinVar RCV:

RCV000190890

RCV000762992

RCV001589057

RCV002311032

ClinVar Variation:

208854

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Arg1809Leu	CA276045 NM_000267.3:c.5426G>T