Canonical Allele Identifier: PA263208
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50195
ClinVar RCV Id: RCV000043464 RCV000482403
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu466Arg
CA014742
NM_000548.5:c.1397T>G