Canonical Allele Identifier: PA658680572
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asp439Glu
CA394322307
NM_000548.5:c.1317C>A
CA394322310
NM_000548.5:c.1317C>G