Allele Registry

Canonical Allele Identifier: PA2825572895

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000559621

RCV002384165

ClinVar Variation:

468197

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Glu332Lys	CA276776600 NM_001114382.3:c.994G>A