Allele Registry

Canonical Allele Identifier: PA2825438174

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529696

ClinVar RCV:

RCV000644152

RCV003162911

ClinVar Variation:

535922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Glu1293Lys	CA050377 NM_001077183.3:c.3877G>A