Allele Registry

Canonical Allele Identifier: PA916022837

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000491778

RCV000542621

RCV001577170

RCV004003437

ClinVar Variation:

428000

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Thr990Met	CA044749 NM_001318827.2:c.2969C>T