Allele Registry

Canonical Allele Identifier: PA2828418648

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000458453

RCV002451086

RCV004000686

ClinVar Variation:

405987

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Val825Leu	CA039144 NM_001370405.1:c.2473G>C