Canonical Allele Identifier: PA915976330
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468039
ClinVar RCV Id: RCV000526703 RCV002350296
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Lys1262Arg
CA048406
NM_001114382.3:c.3785A>G