Allele Registry

Canonical Allele Identifier: PA2825572899

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000531279

RCV002384166

RCV002473056

RCV002483449

RCV003999347

ClinVar Variation:

468198

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Val333Leu	CA394317317 NM_001114382.3:c.997G>C CA394317320 NM_001114382.3:c.997G>T