Allele Registry

Canonical Allele Identifier: PA2828059844

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000541596

RCV002395390

ClinVar Variation:

466031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Val376Leu	CA200889097 NM_001362177.1:c.1126G>C CA375365415 NM_001362177.1:c.1126G>T