Allele Registry

Canonical Allele Identifier: PA2829980352

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644152

RCV003162911

ClinVar Variation:

535922

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Glu1317Lys	CA050377 NM_021055.3:c.3949G>A