Canonical Allele Identifier: PA2829981647
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49473
ClinVar Variation Id: 648504
ClinVar Variation Id: 2705118
ClinVar RCV Id: RCV003512908

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Phe1484Leu
CA020719
NM_021055.3:c.4450T>C
CA394304392
NM_021055.3:c.4452T>A
CA394304402
NM_021055.3:c.4452T>G