Allele Registry

Canonical Allele Identifier: PA2828419553

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034650

RCV000055184

RCV000122226

RCV000163263

RCV000989431

RCV004541070

ClinVar Variation:

41733

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Val1101Met	CA019154 NM_001370405.1:c.3301G>A