Allele Registry

Canonical Allele Identifier: PA115988

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003224

RCV000492011

ClinVar Variation:

3078

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Ser297Tyr	CA115987 NM_000487.5:c.890C>A