Allele Registry

Canonical Allele Identifier: PA2828420486

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644129

RCV003338711

ClinVar Variation:

535904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Thr1379Ile	CA050727 NM_001370405.1:c.4136C>T