Allele Registry

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Canonical Allele Identifier: PA2827020249

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49486

ClinVar RCV Id: RCV000042746 RCV001232925

ClinVar Variation Id: 65278

ClinVar RCV Id: RCV000055499 RCV004537245

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gln1498His	CA020854 NM_001318832.2:c.4494G>C CA020857 NM_001318832.2:c.4494G>T