Allele Registry

Canonical Allele Identifier: PA2827015063

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000471216

RCV000567838

RCV001082119

RCV003479052

ClinVar Variation:

207680

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ser1121Leu	CA050423 NM_001318831.2:c.3362C>T