Allele Registry

Canonical Allele Identifier: PA2825189123

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV003064665

RCV003235764

ClinVar Variation:

2138463

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Pro427Ser	CA412168917 NM_000487.5:c.1279C>T