Canonical Allele Identifier: PA2827004948
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238061
ClinVar RCV Id: RCV000415747 RCV000570208 RCV001088185 RCV003998833 RCV004532853
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val1496Met
CA052464
NM_001318827.2:c.4486G>A