Allele Registry

Canonical Allele Identifier: PA2828414346

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644129

RCV003338711

ClinVar Variation:

535904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Thr1378Ile	CA050727 NM_001370404.1:c.4133C>T