Allele Registry

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Canonical Allele Identifier: PA2827016417

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468147

ClinVar RCV Id: RCV000550602 RCV002341373 RCV000604770 RCV003999327 RCV004538003

ClinVar Variation Id: 2806460

ClinVar RCV Id: RCV003627753

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ile1491Val	CA054409 NM_001318831.2:c.4471A>G CA2739269936 NM_001318831.2:c.4470_4471delinsCG