Allele Registry

Canonical Allele Identifier: PA2827004399

Gene: TSC2 HGNC NCBI

ClinVar Variation Id: 406124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1348Cys	CA050953 NM_001318827.2:c.4042C>T