Canonical Allele Identifier: PA2829973150
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467864
ClinVar Variation Id: 1042948

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Phe452Leu
CA029417
NM_021055.3:c.1356C>A
CA394323342
NM_021055.3:c.1354T>C
CA394323377
NM_021055.3:c.1356C>G