Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2827015736

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_001305760.1:p.Gln1310His	CA020854 NM_001318831.2:c.3930G>C CA020857 NM_001318831.2:c.3930G>T