Allele Registry

Canonical Allele Identifier: PA2827012257

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644129

RCV003338711

ClinVar Variation:

535904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Thr1307Ile	CA050727 NM_001318829.2:c.3920C>T