Canonical Allele Identifier: PA2827013966
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2100443
ClinVar RCV Id: RCV003025893

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Phe708Leu
CA394279532
NM_001318831.2:c.2122T>C
CA394279543
NM_001318831.2:c.2124T>G
CA394279545
NM_001318831.2:c.2124T>A