Allele Registry

Canonical Allele Identifier: PA2828094899

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000524930

RCV001023171

RCV001921077

RCV003167182

RCV003999320

RCV004529046

ClinVar Variation:

468118

1415786

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Thr1557Ser	CA052981 NM_001363528.2:c.4669A>T CA394308289 NM_001363528.2:c.4670C>G