Canonical Allele Identifier: PA2825189290
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2173390
ClinVar RCV Id: RCV002581888
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Arg498Cys
CA325531157
NM_000487.5:c.1492C>T