Allele Registry

Canonical Allele Identifier: PA2827004469

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000472949

RCV002256249

RCV003237849

RCV004000721

ClinVar Variation:

406115

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1367His	CA16614762 NM_001318827.2:c.4100G>A