Allele Registry

Canonical Allele Identifier: PA2827014960

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000122231

RCV000227253

RCV000350281

RCV000490949

RCV000858996

RCV004542922

ClinVar Variation:

135385

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ser1092Leu	CA019831 NM_001318831.2:c.3275C>T