Canonical Allele Identifier: PA2828411744
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asp616Glu
CA394273044
NM_001370404.1:c.1848C>G
CA394273045
NM_001370404.1:c.1848C>A