Canonical Allele Identifier: PA2573170648
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gln1779His
CA055156
NM_000548.5:c.5337G>C
CA394315644
NM_000548.5:c.5337G>T