ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA169452
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000132225
RCV000168027
RCV000484858
RCV000515448
RCV001128217
RCV001128218
RCV001128219
RCV002345446
ClinVar Variation:
142804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ser1838Cys
CA169448
NM_001042492.3:c.5513C>G