Canonical Allele Identifier: PA2825435487
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1424794
ClinVar RCV Id: RCV001924040 RCV004010903
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Glu483Gln
CA394325437
NM_001077183.3:c.1447G>C