ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825133048
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
402363
ClinVar RCV:
RCV000463991
ClinVar Variation:
404556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Lys2252Met
CA16615576
NM_000267.3:c.6755A>T