Allele Registry

Canonical Allele Identifier: PA2828411722

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000013205

RCV000042946

RCV000055317

RCV000414340

RCV000491426

RCV000768118

ClinVar Variation:

12397

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Arg611Gln	CA015920 NM_001370404.1:c.1832G>A