Canonical Allele Identifier: PA2825577110
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49327
ClinVar RCV Id: RCV000042587 RCV001383217
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.His1597Tyr
CA021147
NM_001114382.3:c.4789C>T