Canonical Allele Identifier: PA2825186249
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1310Leu
CA394297222
NM_000548.5:c.3928G>C
CA394297228
NM_000548.5:c.3928G>T