Canonical Allele Identifier: PA2828419985
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380401
ClinVar RCV Id: RCV000441786 RCV000469602 RCV000567292 RCV001354866
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala1230Val
CA048770
NM_001370405.1:c.3689C>T