Allele Registry

Canonical Allele Identifier: PA2827015054

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000713932

RCV001086293

RCV002257693

ClinVar Variation:

405949

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Val1119Ile	CA050403 NM_001318831.2:c.3355G>A