Canonical Allele Identifier: PA2828090189
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238088
ClinVar RCV Id: RCV000227485 RCV001024387
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Cys189Tyr
CA055403
NM_001363528.2:c.566G>A