Canonical Allele Identifier: PA2499236410
Gene: NF1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035957.1:p.Glu1238Gln
CA398992279
NM_001042492.3:c.3712G>C