Allele Registry

Canonical Allele Identifier: PA2828415077

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000524930

RCV001023171

RCV001921077

RCV003167182

RCV003999320

RCV004529046

ClinVar Variation:

468118

1415786

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Thr1579Ser	CA052981 NM_001370404.1:c.4735A>T CA394308289 NM_001370404.1:c.4736C>G