Allele Registry

Canonical Allele Identifier: PA2825577104

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000229416

RCV002315687

RCV003998834

ClinVar Variation:

238066

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Val1595Ile	CA052943 NM_001114382.3:c.4783G>A