Allele Registry

Canonical Allele Identifier: PA2829975681

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000518165

ClinVar Variation:

448724

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Leu717Gln	CA394274849 NM_021055.3:c.2150T>A