Allele Registry

Canonical Allele Identifier: PA2828412052

Gene: TSC2 HGNC NCBI

ClinVar Allele:

227853

ClinVar RCV:

RCV000211466

RCV000542869

RCV001580472

RCV002415885

ClinVar Variation:

226045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Val692Ile	CA036245 NM_001370404.1:c.2074G>A