Allele Registry

Canonical Allele Identifier: PA2827018642

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000469143

RCV000574231

ClinVar Variation:

405964

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg1045Trp	CA044888 NM_001318832.2:c.3133C>T CA645573330 NM_001318832.2:c.3132_3133delinsTT