Canonical Allele Identifier: PA2828094479
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_001350457.1:p.His1440Tyr
CA394302760
NM_001363528.2:c.4318C>T