Allele Registry

Canonical Allele Identifier: PA2825919577

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000228446

RCV001020245

RCV003998779

ClinVar Variation:

237719

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.His1138Pro	CA10582619 NM_001162426.2:c.3413A>C