Allele Registry

Canonical Allele Identifier: PA915970808

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003228

RCV000544790

ClinVar Variation:

3082

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Arg372Gln	CA115993 NM_001085427.3:c.1115G>A