Allele Registry

Canonical Allele Identifier: PA2828415710

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000471005

RCV000562164

RCV000610568

RCV003392272

RCV004000682

ClinVar Variation:

405968

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Thr1736Ile	CA055164 NM_001370404.1:c.5207C>T