Canonical Allele Identifier: PA915976260
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467979
ClinVar RCV Id: RCV000556209 RCV001755848 RCV003302849 RCV003999281
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Arg988Cys
CA043032
NM_001114382.3:c.2962C>T