Allele Registry

Canonical Allele Identifier: PA2828421675

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000689057

RCV001023775

RCV001705542

ClinVar Variation:

372688

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg1698His	CA054529 NM_001370405.1:c.5093G>A