Allele Registry

Canonical Allele Identifier: PA2825577749

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000604792

RCV000644420

RCV002258972

ClinVar Variation:

514715

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Gln1756Arg	CA055149 NM_001114382.3:c.5267A>G