Allele Registry

Canonical Allele Identifier: PA2827002131

Gene: TSC2 HGNC NCBI

ClinVar Allele:

227853

ClinVar RCV:

RCV000211466

RCV000542869

RCV001580472

RCV002415885

ClinVar Variation:

226045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Val655Ile	CA036245 NM_001318827.2:c.1963G>A