Allele Registry

Canonical Allele Identifier: PA2825958125

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000574109

RCV000689229

ClinVar Variation:

486572

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Glu1111Asp	CA037138 NM_001162427.2:c.3333A>T CA375366263 NM_001162427.2:c.3333A>C