Allele Registry

Canonical Allele Identifier: PA2827004119

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000471216

RCV000567838

RCV001082119

RCV003479052

ClinVar Variation:

207680

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser1262Leu	CA050423 NM_001318827.2:c.3785C>T