Canonical Allele Identifier: PA262671
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1698Arg
CA021705
NM_000548.5:c.5094C>A
CA394312112
NM_000548.5:c.5092A>C
CA394312138
NM_000548.5:c.5094C>G