Allele Registry

Canonical Allele Identifier: PA658680798

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000518165

ClinVar Variation:

448724

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu717Gln	CA394274849 NM_000548.5:c.2150T>A