Allele Registry

Canonical Allele Identifier: PA2828414595

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000565264

RCV001859982

RCV001915287

RCV002331423

ClinVar Variation:

486695

1398873

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Glu1446Asp	CA394302506 NM_001370404.1:c.4338G>C CA394302508 NM_001370404.1:c.4338G>T