Allele Registry

Canonical Allele Identifier: PA2825576161

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000230897

RCV003165606

RCV003998826

ClinVar Variation:

238040

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Glu1328Lys	CA10583329 NM_001114382.3:c.3982G>A