Allele Registry

Canonical Allele Identifier: PA916023809

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000013207

RCV000042452

ClinVar Variation:

12398

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Leu728Arg	CA016832 NM_001318832.2:c.2183T>G