Allele Registry

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Canonical Allele Identifier: PA2828413659

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718047

ClinVar RCV Id: RCV002304844

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ser1173Arg	CA394291960 NM_001370404.1:c.3517A>C CA394291979 NM_001370404.1:c.3519C>A CA394291987 NM_001370404.1:c.3519C>G