Canonical Allele Identifier: PA2828417986
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406009
ClinVar RCV Id: RCV000467991 RCV000603190 RCV002411434 RCV003392273 RCV004000694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val645Ile
CA034565
NM_001370405.1:c.1933G>A