Canonical Allele Identifier: PA2828411849
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 838446
ClinVar RCV Id: RCV001039993 RCV002258095 RCV003328646 RCV003461450
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val645Phe
CA034596
NM_001370404.1:c.1933G>T