Allele Registry

Canonical Allele Identifier: PA916023422

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226213

RCV000568157

ClinVar Variation:

237961

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Glu416Gln	CA028805 NM_001318832.2:c.1246G>C