Allele Registry

Canonical Allele Identifier: PA2827015345

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000443899

RCV001022342

RCV001082242

ClinVar Variation:

238046

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg1207His	CA050956 NM_001318831.2:c.3620G>A