Allele Registry

Canonical Allele Identifier: PA2825573240

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000444336

RCV001221267

RCV002318425

RCV004000390

ClinVar Variation:

383175

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.His435Tyr	CA029254 NM_001114382.3:c.1303C>T