ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658682557
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457845
ClinVar RCV Id:
RCV000548130
RCV002483372
RCV002420369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg2486Gly
CA8487573
NM_001042492.3:c.7456A>G