Allele Registry

Canonical Allele Identifier: PA2827019576

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000471216

RCV000567838

RCV001082119

RCV003479052

ClinVar Variation:

207680

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ser1309Leu	CA050423 NM_001318832.2:c.3926C>T