Allele Registry

Canonical Allele Identifier: PA645431948

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000444336

RCV001221267

RCV002318425

RCV004000390

ClinVar Variation:

383175

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.His435Tyr	CA029254 NM_000548.5:c.1303C>T