Canonical Allele Identifier: PA2825437108
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49874
ClinVar RCV Id: RCV000043140 RCV001216513
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Leu983Pro
CA018468
NM_001077183.3:c.2948T>C