Allele Registry

Canonical Allele Identifier: PA264700

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055526

RCV002287358

RCV004537247

ClinVar Variation:

65304

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1498Thr	CA020540 NM_000548.5:c.4493G>C