Allele Registry

Canonical Allele Identifier: PA2825439726

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190045

RCV001084324

RCV002345684

ClinVar Variation:

207763

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Glu1716Lys	CA055186 NM_001077183.3:c.5146G>A