Allele Registry

Canonical Allele Identifier: PA915970760

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058997

RCV000984245

ClinVar Variation:

68165

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Arg313Gln	CA219086 NM_001085427.3:c.938G>A