Canonical Allele Identifier: PA1139674297
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 954178
ClinVar RCV Id: RCV001226591 RCV002356962 RCV002491716
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1344Gly
CA394299251
NM_000548.5:c.4031A>G