Allele Registry

Canonical Allele Identifier: PA2827011339

Gene: TSC2 HGNC NCBI

ClinVar Allele:

227853

ClinVar RCV:

RCV000211466

RCV000542869

RCV001580472

RCV002415885

ClinVar Variation:

226045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val643Ile	CA036245 NM_001318829.2:c.1927G>A