Allele Registry

Canonical Allele Identifier: PA164288

Gene: NF1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

50114

ClinVar RCV:

RCV000034587

RCV000129366

RCV000214790

RCV001082296

RCV001122580

RCV001122581

RCV001122582

RCV002362613

RCV003233080

RCV004549402

ClinVar Variation:

41675

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Pro2289Leu	CA164285 NM_000267.3:c.6866C>T