Allele Registry

Canonical Allele Identifier: PA2828417004

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042395

RCV000413741

RCV001065226

ClinVar Variation:

49140

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Leu362Pro	CA013704 NM_001370405.1:c.1085T>C