Allele Registry

Canonical Allele Identifier: PA645436511

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000471005

RCV000562164

RCV000610568

RCV003392272

RCV004000682

ClinVar Variation:

405968

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Thr1780Ile	CA055164 NM_000548.5:c.5339C>T