Canonical Allele Identifier: PA2827012814
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Met389Ile
CA394272880
NM_001318831.2:c.1167G>A
CA394272881
NM_001318831.2:c.1167G>C
CA394272882
NM_001318831.2:c.1167G>T