Allele Registry

Canonical Allele Identifier: PA2827020469

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000229416

RCV002315687

RCV003998834

ClinVar Variation:

238066

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Val1562Ile	CA052943 NM_001318832.2:c.4684G>A