Allele Registry

Canonical Allele Identifier: PA2825956050

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000541596

RCV002395390

ClinVar Variation:

466031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Val446Leu	CA200889097 NM_001162427.2:c.1336G>C CA375365415 NM_001162427.2:c.1336G>T