Allele Registry

Canonical Allele Identifier: PA916023595

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000552124

RCV002404476

RCV003999256

ClinVar Variation:

467890

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Val575Ile	CA032290 NM_001318832.2:c.1723G>A