ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827013981
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1795355
ClinVar RCV Id:
RCV002437540
RCV003512186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr713Pro
CA394279610
NM_001318831.2:c.2137A>C