Allele Registry

Canonical Allele Identifier: PA2827006614

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644146

RCV002282288

RCV002424465

RCV002483858

RCV004004001

ClinVar Variation:

535916

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Glu317Gln	CA276776700 NM_001318829.2:c.949G>C