Allele Registry

Canonical Allele Identifier: PA2828061352

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000228446

RCV001020245

RCV003998779

ClinVar Variation:

237719

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.His1018Pro	CA10582619 NM_001362177.1:c.3053A>C