Allele Registry

Canonical Allele Identifier: PA2827001801

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000013205

RCV000042946

RCV000055317

RCV000414340

RCV000491426

RCV000768118

ClinVar Variation:

12397

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg574Gln	CA015920 NM_001318827.2:c.1721G>A