Canonical Allele Identifier: PA2825575530
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406107
ClinVar RCV Id: RCV000462249 RCV000569265 RCV002056709
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Ser1132Leu
CA046484
NM_001114382.3:c.3395C>T