Allele Registry

Canonical Allele Identifier: PA2828418268

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000436141

RCV001359510

RCV002429378

RCV003996049

ClinVar Variation:

380717

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ser716Phe	CA036848 NM_001370405.1:c.2147C>T