Allele Registry

Canonical Allele Identifier: PA2827020249

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042746

RCV000055499

RCV001232925

RCV004537245

ClinVar Variation:

49486

65278

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gln1498His	CA020854 NM_001318832.2:c.4494G>C CA020857 NM_001318832.2:c.4494G>T