Allele Registry

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Canonical Allele Identifier: PA2827001992

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447549

ClinVar RCV Id: RCV002011925

ClinVar Variation Id: 2564679

ClinVar RCV Id: RCV003297111

ClinVar Variation Id: 2893449

ClinVar RCV Id: RCV003627202

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser623Arg	CA394274362 NM_001318827.2:c.1867A>C CA394274370 NM_001318827.2:c.1869C>A CA394274372 NM_001318827.2:c.1869C>G