Canonical Allele Identifier: PA189241
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65289
ClinVar RCV Id: RCV000055511 RCV000163808 RCV000189940 RCV000585252 RCV001081308 RCV004537246
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1679Lys
CA021570
NM_000548.5:c.5035G>A