Allele Registry

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Canonical Allele Identifier: PA2828060395

Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005583

ClinVar RCV Id: RCV001302483 RCV002418916 RCV004005010

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Phe586Leu	CA375361006 NM_001362177.1:c.1758T>G CA375361007 NM_001362177.1:c.1758T>A CA375361013 NM_001362177.1:c.1756T>C