Allele Registry

Canonical Allele Identifier: PA2828421730

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401449

ClinVar RCV:

RCV000457700

RCV001023824

RCV003463867

RCV004000717

ClinVar Variation:

406083

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Glu1710Lys	CA16615048 NM_001370405.1:c.5128G>A