Allele Registry

Canonical Allele Identifier: PA2825440350

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000211466

RCV000542869

RCV001580472

RCV002415885

ClinVar Variation:

226045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Val692Ile	CA036245 NM_001077183.3:c.2074G>A