Canonical Allele Identifier: PA2825180174
Gene: TSC2 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu236Pro
CA394312705
NM_000548.5:c.707T>C
CA1139664329
NM_000548.5:c.707_708delinsCT