Canonical Allele Identifier: PA2828410113
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asp129Glu
CA394306884
NM_001370404.1:c.387T>A
CA394306885
NM_001370404.1:c.387T>G