Canonical Allele Identifier: PA2825518686
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_001078894.2:p.Ala509_Ter510insArgGlyProLeuGlyTrpProGlyHisValMetAlaProHisTrpGluProValGlyGluAlaGlnValSerGlyGlyGlyLeuCysLeuIleThr
CA412166561
NM_001085425.3:c.1528T>C
CA412166563
NM_001085425.3:c.1528T>A