ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA095670
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30992
ClinVar RCV Id:
RCV000023983
RCV000059194
RCV000195735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Leu1411Phe
CA129599
NM_001042492.3:c.4231C>T