Allele Registry

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Canonical Allele Identifier: PA2825519394

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2429152

ClinVar RCV Id: RCV003123391

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078895.2:p.Ala509_Ter510insArgGlyProLeuGlyTrpProGlyHisValMetAlaProHisTrpGluProValGlyGluAlaGlnValSerGlyGlyGlyLeuCysLeuIleThr	CA412166561 NM_001085426.3:c.1528T>C CA412166563 NM_001085426.3:c.1528T>A