Allele Registry

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Canonical Allele Identifier: PA2828414750

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718303

ClinVar RCV Id: RCV002299719

ClinVar Variation Id: 2810197

ClinVar RCV Id: RCV003627812

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Val1487Leu	CA394304492 NM_001370404.1:c.4459G>C CA394304496 NM_001370404.1:c.4459G>T