Allele Registry

Canonical Allele Identifier: PA2825954061

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000550137

RCV002384148

ClinVar Variation:

466023

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Thr44Ala	CA375375194 NM_001162426.2:c.130A>G