Allele Registry

Canonical Allele Identifier: PA2827014078

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644215

RCV001016700

ClinVar Variation:

535970

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Glu742Gly	CA276742132 NM_001318831.2:c.2225A>G