Allele Registry

Canonical Allele Identifier: PA2827016235

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644156

RCV001023500

ClinVar Variation:

535926

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Glu1448Asp	CA394311952 NM_001318831.2:c.4344G>C CA394311954 NM_001318831.2:c.4344G>T