ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA191714
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000164762
RCV000408787
RCV000494213
RCV000762993
RCV001257532
RCV003162694
RCV003462148
ClinVar Variation:
185354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg1870Gln
CA191710
NM_001042492.3:c.5609G>A