Allele Registry

Canonical Allele Identifier: PA319380

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000471216

RCV000567838

RCV001082119

RCV003479052

ClinVar Variation:

207680

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1365Leu	CA050423 NM_000548.5:c.4094C>T