Allele Registry

Canonical Allele Identifier: PA2828413721

Gene: TSC2 HGNC NCBI

ClinVar Variation Id: 2075111

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Met1192Ile	CA394292653 NM_001370404.1:c.3576G>A CA394292655 NM_001370404.1:c.3576G>C CA394292659 NM_001370404.1:c.3576G>T