Canonical Allele Identifier: PA2829978508
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_066399.2:p.Ser1053Phe
CA045537
NM_021055.3:c.3158C>T