Canonical Allele Identifier: PA2825435870
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467896
ClinVar RCV Id: RCV000536893 RCV002404479
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.His600Tyr
CA033559
NM_001077183.3:c.1798C>T