Canonical Allele Identifier: PA2827015550
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468095
ClinVar RCV Id: RCV000542919 RCV001764575 RCV002341363
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.His1262Tyr
CA394302760
NM_001318831.2:c.3784C>T