Canonical Allele Identifier: PA2825189309
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_000478.3:p.Ala509_Ter510insArgGlyProLeuGlyTrpProGlyHisValMetAlaProHisTrpGluProValGlyGluAlaGlnValSerGlyGlyGlyLeuCysLeuIleThr
CA412166561
NM_000487.5:c.1528T>C
CA412166563
NM_000487.5:c.1528T>A