Allele Registry

Canonical Allele Identifier: PA2828414166

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000471216

RCV000567838

RCV001082119

RCV003479052

ClinVar Variation:

207680

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ser1321Leu	CA050423 NM_001370404.1:c.3962C>T