Canonical Allele Identifier: PA2829979490
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718047
ClinVar RCV Id: RCV002304844

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Ser1174Arg
CA394291960
NM_021055.3:c.3520A>C
CA394291979
NM_021055.3:c.3522C>A
CA394291987
NM_021055.3:c.3522C>G