Canonical Allele Identifier: PA915960002
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1599Leu
CA394308011
NM_000548.5:c.4795G>C
CA394308013
NM_000548.5:c.4795G>T