Allele Registry

Canonical Allele Identifier: PA2825519284

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV003064665

RCV003235764

ClinVar Variation:

2138463

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078895.2:p.Pro427Ser	CA412168917 NM_001085426.3:c.1279C>T