Canonical Allele Identifier: PA2827012931
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Asp416Glu
CA394273044
NM_001318831.2:c.1248C>G
CA394273045
NM_001318831.2:c.1248C>A