Allele Registry

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Canonical Allele Identifier: PA2828060400

Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1786339

ClinVar RCV Id: RCV002417716

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Arg588Ser	CA375360991 NM_001362177.1:c.1764G>T CA375360992 NM_001362177.1:c.1764G>C