Allele Registry

Canonical Allele Identifier: PA2828416330

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76313

ClinVar RCV:

RCV000055607

RCV000465969

RCV000575914

RCV001557660

RCV003996482

ClinVar Variation:

65379

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.His152Asp	CA020642 NM_001370405.1:c.454C>G