Allele Registry

Canonical Allele Identifier: PA2828059556

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000462240

RCV002323744

ClinVar Variation:

411265

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Thr259Ala	CA16612770 NM_001362177.1:c.775A>G