Allele Registry

Canonical Allele Identifier: PA2825576684

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042758

RCV001889529

RCV002250506

ClinVar Variation:

49498

1390361

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Gln1480His	CA020576 NM_001114382.3:c.4440G>T CA394302743 NM_001114382.3:c.4440G>C