ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139669846
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
848494
ClinVar RCV Id:
RCV001052263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Pro1604Arg
CA399001342
NM_001042492.3:c.4811C>G