Canonical Allele Identifier: PA2829974096
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318314
ClinVar RCV Id: RCV000359958 RCV000560091 RCV004021647
ClinVar Variation Id: 1779235
ClinVar RCV Id: RCV002401434 RCV003324855
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Ser581Arg
CA033256
NM_021055.3:c.1743C>A
CA394272742
NM_021055.3:c.1741A>C
CA394272756
NM_021055.3:c.1743C>G