Allele Registry

Canonical Allele Identifier: PA2828094342

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000472949

RCV002256249

RCV003237849

RCV004000721

ClinVar Variation:

406115

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg1404His	CA16614762 NM_001363528.2:c.4211G>A