Allele Registry

Canonical Allele Identifier: PA2828415142

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59140

ClinVar RCV:

RCV000043245

RCV001238557

RCV002345329

ClinVar Variation:

49978

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Gly1598Asp	CA021290 NM_001370404.1:c.4793G>A