Allele Registry

Canonical Allele Identifier: PA2827015245

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644129

RCV003338711

ClinVar Variation:

535904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Thr1178Ile	CA050727 NM_001318831.2:c.3533C>T