Allele Registry

Canonical Allele Identifier: PA916024049

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000433002

RCV000456443

RCV002323631

ClinVar Variation:

386865

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Met997Val	CA044156 NM_001318832.2:c.2989A>G