Canonical Allele Identifier: PA2825184760
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1073Leu
CA394285899
NM_000548.5:c.3217G>T
CA394285901
NM_000548.5:c.3217G>C