Allele Registry

Canonical Allele Identifier: PA2825956088

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000541596

RCV002395390

ClinVar Variation:

466031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Val496Leu	CA200889097 NM_001162426.2:c.1486G>C CA375365415 NM_001162426.2:c.1486G>T