Allele Registry

Canonical Allele Identifier: PA2827009672

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042758

RCV001889529

RCV002250506

ClinVar Variation:

49498

1390361

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Gln1388His	CA020576 NM_001318829.2:c.4164G>T CA394302743 NM_001318829.2:c.4164G>C