Allele Registry

Canonical Allele Identifier: PA645433082

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000491778

RCV000542621

RCV001577170

RCV004003437

ClinVar Variation:

428000

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Thr1070Met	CA044749 NM_000548.5:c.3209C>T