Canonical Allele Identifier: PA2499236409
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 996453
ClinVar RCV Id: RCV001290862
ClinVar Variation Id: 1455051
ClinVar RCV Id: RCV001939654

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035957.1:p.Gly1219Arg
CA398990487
NM_001042492.3:c.3655G>A
CA398990489
NM_001042492.3:c.3655G>C