ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825129527
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2872317
ClinVar RCV Id:
RCV003597699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Pro1532Leu
CA399000400
NM_000267.3:c.4595C>T