Allele Registry

Canonical Allele Identifier: PA2825438273

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000234433

RCV002327110

ClinVar Variation:

238044

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Glu1323Lys	CA050575 NM_001077183.3:c.3967G>A