Allele Registry

Canonical Allele Identifier: PA2828410437

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000458732

RCV002365618

ClinVar Variation:

406031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Pro232Ser	CA056156 NM_001370404.1:c.694C>T