Allele Registry

Canonical Allele Identifier: PA916043469

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003214

ClinVar Variation:

3068

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Pro83Arg	CA278028 NM_001362782.2:c.248C>G