Allele Registry

Canonical Allele Identifier: PA915986805

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000459301

RCV002429539

RCV004001895

ClinVar Variation:

411230

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Val277Ala	CA16612648 NM_001162426.2:c.830T>C