ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA194032
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186162
ClinVar RCV Id:
RCV000165705
RCV000196434
RCV000515215
RCV001818383
RCV001548376
RCV003162703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ile2405Val
CA194028
NM_001042492.3:c.7213A>G