Allele Registry

Canonical Allele Identifier: PA2828095534

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401725

ClinVar RCV:

RCV000471005

RCV000562164

RCV000610568

RCV003392272

RCV004000682

ClinVar Variation:

405968

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Thr1714Ile	CA055164 NM_001363528.2:c.5141C>T