Canonical Allele Identifier: PA2827003259
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405973
ClinVar RCV Id: RCV000464873 RCV000569892 RCV001721496 RCV004533160
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser1016Phe
CA045537
NM_001318827.2:c.3047C>T