Allele Registry

Canonical Allele Identifier: PA2828421643

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242336

ClinVar RCV:

RCV000226974

RCV000564490

RCV001675679

RCV003998837

ClinVar Variation:

238078

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Pro1690Ser	CA054437 NM_001370405.1:c.5068C>T