Canonical Allele Identifier: PA2828091615
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467902
ClinVar RCV Id: RCV000532879

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Gln613His
CA394273020
NM_001363528.2:c.1839G>C
CA394273021
NM_001363528.2:c.1839G>T