Allele Registry

Canonical Allele Identifier: PA2827011694

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226007

RCV001019379

RCV001770191

RCV003998846

ClinVar Variation:

238099

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Pro116Gln	CA056703 NM_001318831.2:c.347C>A