Allele Registry

Canonical Allele Identifier: PA2828414062

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000122231

RCV000227253

RCV000350281

RCV000490949

RCV000858996

RCV004542922

ClinVar Variation:

135385

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ser1292Leu	CA019831 NM_001370404.1:c.3875C>T