Allele Registry

Canonical Allele Identifier: PA2827017380

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644160

RCV002369704

RCV004004005

ClinVar Variation:

535930

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Asp299Glu	CA276775635 NM_001318832.2:c.897C>G CA394315011 NM_001318832.2:c.897C>A