Allele Registry

Canonical Allele Identifier: PA2825958071

Gene: TSC1 HGNC NCBI

ClinVar Allele:

240472

ClinVar RCV:

RCV000228446

RCV001020245

RCV003998779

ClinVar Variation:

237719

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.His1088Pro	CA10582619 NM_001162427.2:c.3263A>C