ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827013949
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2762661
ClinVar RCV Id:
RCV003512525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Pro703Leu
CA394279468
NM_001318831.2:c.2108C>T