This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: NF1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000462408.1:p.Met1248Ile
CA398990415
ENST00000579081.5:c.3744G>A
CA398990417
ENST00000579081.5:c.3744G>C
CA398990418
ENST00000579081.5:c.3744G>T