ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658682176
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485956
ClinVar RCV Id:
RCV001064262
RCV002315842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Leu578Pro
CA399004013
NM_001042492.3:c.1733T>C