Allele Registry

Canonical Allele Identifier: PA916023376

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042395

RCV000413741

RCV001065226

ClinVar Variation:

49140

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Leu373Pro	CA013704 NM_001318832.2:c.1118T>C