ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658831903
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
547632
ClinVar RCV Id:
RCV000660041
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Gly1219del
CA658824756
NM_001042492.3:c.3656_3658del