Allele Registry

Canonical Allele Identifier: PA915987099

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000462240

RCV002323744

ClinVar Variation:

411265

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Thr380Ala	CA16612770 NM_001162426.2:c.1138A>G