Allele Registry

Canonical Allele Identifier: PA2828415060

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000229416

RCV002315687

RCV003998834

ClinVar Variation:

238066

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Val1574Ile	CA052943 NM_001370404.1:c.4720G>A