Allele Registry

Canonical Allele Identifier: PA916023440

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043444

RCV000201101

ClinVar Variation:

50176

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro430Ser	CA014179 NM_001318832.2:c.1288C>T