Canonical Allele Identifier: PA2828413659
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718047
ClinVar RCV Id: RCV002304844

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1173Arg
CA394291960
NM_001370404.1:c.3517A>C
CA394291979
NM_001370404.1:c.3519C>A
CA394291987
NM_001370404.1:c.3519C>G