Allele Registry

Canonical Allele Identifier: PA2825572375

Gene: TSC2 HGNC NCBI

ClinVar Variation Id: 578409

ClinVar RCV Id: RCV000701409

ClinVar Variation Id: 1745015

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Met168Ile	CA053610 NM_001114382.3:c.504G>T CA394309174 NM_001114382.3:c.504G>A CA394309178 NM_001114382.3:c.504G>C