Canonical Allele Identifier: PA2828411866
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Met649Ile
CA035244
NM_001370404.1:c.1947G>A
CA394273547
NM_001370404.1:c.1947G>C
CA394273549
NM_001370404.1:c.1947G>T