ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580143671
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1742692
ClinVar RCV Id:
RCV002335442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Gly1597Glu
CA399001298
NM_001042492.3:c.4790G>A