Allele Registry

Canonical Allele Identifier: PA2827015321

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000687287

RCV003163113

ClinVar Variation:

567263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Pro1200Leu	CA276753419 NM_001318831.2:c.3599C>T