Canonical Allele Identifier: PA2573199999
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447549
ClinVar RCV Id: RCV002011925
ClinVar Variation Id: 2564679
ClinVar RCV Id: RCV003297111
ClinVar Variation Id: 2893449
ClinVar RCV Id: RCV003627202

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Ser671Arg
CA394274362
NM_001318832.2:c.2011A>C
CA394274370
NM_001318832.2:c.2013C>A
CA394274372
NM_001318832.2:c.2013C>G