Allele Registry

Canonical Allele Identifier: PA2828420715

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644158

RCV002331189

RCV004004004

ClinVar Variation:

535928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Thr1442Ile	CA051214 NM_001370405.1:c.4325C>T