Allele Registry

Canonical Allele Identifier: PA2825955300

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000459301

RCV002429539

RCV004001895

ClinVar Variation:

411230

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Val226Ala	CA16612648 NM_001162427.2:c.677T>C