Allele Registry

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Canonical Allele Identifier: PA2827013182

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 937500

ClinVar RCV Id: RCV001206521 RCV002418687

ClinVar Variation Id: 1052187

ClinVar RCV Id: RCV001360322 RCV003382553

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Val479Leu	CA394274552 NM_001318831.2:c.1435G>C CA394274554 NM_001318831.2:c.1435G>T