Canonical Allele Identifier: PA2825575821
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718047
ClinVar RCV Id: RCV002304844

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Ser1217Arg
CA394291960
NM_001114382.3:c.3649A>C
CA394291979
NM_001114382.3:c.3651C>A
CA394291987
NM_001114382.3:c.3651C>G