Canonical Allele Identifier: PA916023773
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Val695Leu
CA394274596
NM_001318832.2:c.2083G>C
CA394274597
NM_001318832.2:c.2083G>T
CA658658370
NM_001318832.2:c.2082_2083delinsTC