Canonical Allele Identifier: PA2827004820
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50052
ClinVar RCV Id: RCV000043318 RCV000713940 RCV000989438 RCV002336165
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu1459Pro
CA020902
NM_001318827.2:c.4376T>C