Allele Registry

Canonical Allele Identifier: PA2828059994

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000573925

RCV000697288

RCV003139872

ClinVar Variation:

480855

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Gly439Ser	CA029360 NM_001362177.1:c.1315G>A