Allele Registry

Canonical Allele Identifier: PA2827005028

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000524930

RCV001023171

RCV001921077

RCV003167182

RCV003999320

RCV004529046

ClinVar Variation:

468118

1415786

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Thr1520Ser	CA052981 NM_001318827.2:c.4558A>T CA394308289 NM_001318827.2:c.4559C>G