Canonical Allele Identifier: PA115996
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3083
ClinVar RCV Id: RCV000003229 RCV002512051 RCV003500499
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Pro379Leu
CA115995
NM_000487.5:c.1136C>T