Canonical Allele Identifier: PA2827007275
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65334
ClinVar RCV Id: RCV000055558 RCV001824119
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.His548Tyr
CA015730
NM_001318829.2:c.1642C>T