Allele Registry

Canonical Allele Identifier: PA2827010591

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190045

RCV001084324

RCV002345684

ClinVar Variation:

207763

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Glu1668Lys	CA055186 NM_001318829.2:c.5002G>A