Allele Registry

Canonical Allele Identifier: PA2825438070

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000460658

RCV000607342

RCV001021602

RCV004000727

ClinVar Variation:

406131

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Asp1264Glu	CA049880 NM_001077183.3:c.3792T>A CA394297754 NM_001077183.3:c.3792T>G