Allele Registry

Canonical Allele Identifier: PA2827019833

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000687287

RCV003163113

ClinVar Variation:

567263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro1388Leu	CA276753419 NM_001318832.2:c.4163C>T