Canonical Allele Identifier: PA2827005310
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser1595Arg
CA021705
NM_001318827.2:c.4785C>A
CA394312112
NM_001318827.2:c.4783A>C
CA394312138
NM_001318827.2:c.4785C>G