Canonical Allele Identifier: PA2827019134
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718047
ClinVar RCV Id: RCV002304844

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Ser1184Arg
CA394291960
NM_001318832.2:c.3550A>C
CA394291979
NM_001318832.2:c.3552C>A
CA394291987
NM_001318832.2:c.3552C>G