Allele Registry

Canonical Allele Identifier: PA2828418386

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644353

RCV001558093

RCV002422327

RCV004004042

ClinVar Variation:

536065

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg749Trp	CA037721 NM_001370405.1:c.2245C>T