ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023769
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
566246
ClinVar RCV Id:
RCV000686007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gly693Glu
CA394274581
NM_001318832.2:c.2078G>A