Allele Registry

Canonical Allele Identifier: PA2828414144

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529696

ClinVar RCV:

RCV000644152

RCV003162911

ClinVar Variation:

535922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Glu1316Lys	CA050377 NM_001370404.1:c.3946G>A