Allele Registry

Canonical Allele Identifier: PA2825438451

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000687287

RCV003163113

ClinVar Variation:

567263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Pro1377Leu	CA276753419 NM_001077183.3:c.4130C>T