Canonical Allele Identifier: PA2828417429
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207716
ClinVar RCV Id: RCV000189981 RCV001857664
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu493Phe
CA319444
NM_001370405.1:c.1477C>T