Allele Registry

Canonical Allele Identifier: PA2827009179

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644212

RCV002325262

ClinVar Variation:

535968

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Leu1232Pro	CA394299288 NM_001318829.2:c.3695T>C