Canonical Allele Identifier: PA2828091904
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Val684Leu
CA394274596
NM_001363528.2:c.2050G>C
CA394274597
NM_001363528.2:c.2050G>T
CA658658370
NM_001363528.2:c.2049_2050delinsTC