Canonical Allele Identifier: PA115982
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3069
ClinVar RCV Id: RCV000003215 RCV000540770 RCV001251908 RCV002265546 RCV003480017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Asp171Asn
CA115981
NM_000487.5:c.511G>A