Allele Registry

Canonical Allele Identifier: PA2825520089

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058997

RCV000984245

ClinVar Variation:

68165

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Arg227Gln	CA219086 NM_001085428.3:c.680G>A