Allele Registry

Canonical Allele Identifier: PA2827020054

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042758

RCV001889529

RCV002250506

ClinVar Variation:

49498

1390361

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gln1447His	CA020576 NM_001318832.2:c.4341G>T CA394302743 NM_001318832.2:c.4341G>C