Canonical Allele Identifier: PA2828411730
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404023
ClinVar RCV Id: RCV001901434 RCV002290794 RCV002407040 RCV004010827
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gln613Arg
CA394273018
NM_001370404.1:c.1838A>G