Allele Registry

Canonical Allele Identifier: PA2827000962

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644146

RCV002282288

RCV002424465

RCV002483858

RCV004004001

ClinVar Variation:

535916

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Glu329Gln	CA276776700 NM_001318827.2:c.985G>C