Allele Registry

Canonical Allele Identifier: PA2828421902

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000423075

RCV000531557

RCV000565678

RCV004000340

ClinVar Variation:

381472

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg1748His	CA055272 NM_001370405.1:c.5243G>A