Allele Registry

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Canonical Allele Identifier: PA1139689131

Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 954375

ClinVar RCV Id: RCV001226821 RCV004032586

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Val227Leu	CA375371463 NM_001162426.2:c.679G>T CA375371467 NM_001162426.2:c.679G>C