Allele Registry

Canonical Allele Identifier: PA2828421477

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644156

RCV001023500

ClinVar Variation:

535926

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Glu1649Asp	CA394311952 NM_001370405.1:c.4947G>C CA394311954 NM_001370405.1:c.4947G>T