ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825575857
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406092
ClinVar RCV Id:
RCV000475309
RCV002348295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Gln1229Arg
CA16614724
NM_001114382.3:c.3686A>G