ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA166589
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141844
ClinVar RCV Id:
RCV000130522
RCV000421743
RCV000475666
RCV000764117
RCV001818315
RCV002381447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Thr2486Ile
CA166586
NM_000267.3:c.7457C>T