Allele Registry

Canonical Allele Identifier: PA2828093030

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000491778

RCV000542621

RCV001577170

RCV004003437

ClinVar Variation:

428000

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Thr1027Met	CA044749 NM_001363528.2:c.3080C>T