Allele Registry

Canonical Allele Identifier: PA2825576390

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644129

RCV003338711

ClinVar Variation:

535904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Thr1399Ile	CA050727 NM_001114382.3:c.4196C>T