Canonical Allele Identifier: PA2827003993
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406131
ClinVar RCV Id: RCV000460658 RCV000607342 RCV001021602 RCV004000727
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Asp1228Glu
CA049880
NM_001318827.2:c.3684T>A
CA394297754
NM_001318827.2:c.3684T>G