Allele Registry

Canonical Allele Identifier: PA916024014

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000563535

RCV000924510

RCV001577990

ClinVar Variation:

480854

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Glu940Lys	CA041991 NM_001318832.2:c.2818G>A