Allele Registry

Canonical Allele Identifier: PA2828411529

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000552124

RCV002404476

RCV003999256

ClinVar Variation:

467890

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Val564Ile	CA032290 NM_001370404.1:c.1690G>A