Canonical Allele Identifier: PA247541
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 198734
ClinVar RCV Id: RCV000180165 RCV000388131 RCV003927699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Glu483Lys
CA247540
NM_000487.5:c.1447G>A