Allele Registry

Canonical Allele Identifier: PA2828412399

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000307485

RCV000687605

RCV002450875

RCV002487404

RCV003469253

ClinVar Variation:

318322

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Cys791Phe	CA038816 NM_001370404.1:c.2372G>T