Allele Registry

Canonical Allele Identifier: PA2825576174

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203184

ClinVar RCV:

RCV000190029

RCV000644243

RCV001021792

RCV003996895

ClinVar Variation:

207752

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Gly1333Asp	CA050325 NM_001114382.3:c.3998G>A