Allele Registry

Canonical Allele Identifier: PA2828417040

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000457917

RCV001017372

RCV002244933

RCV003463864

ClinVar Variation:

405972

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Leu372Pro	CA16614653 NM_001370405.1:c.1115T>C