ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825134112
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
478348
ClinVar RCV:
RCV001040889
RCV002315758
RCV002491121
ClinVar Variation:
480169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Arg2573Cys
CA8487663
NM_000267.3:c.7717C>T