Allele Registry

Canonical Allele Identifier: PA2828065443

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV003064665

RCV003235764

ClinVar Variation:

2138463

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Pro341Ser	CA412168917 NM_001362782.2:c.1021C>T