Allele Registry

Canonical Allele Identifier: PA2828415136

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000594599

RCV001852204

ClinVar Variation:

197025

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.His1596Pro	CA021276 NM_001370404.1:c.4787A>C