Allele Registry

Canonical Allele Identifier: PA2825519816

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058964

RCV001242589

ClinVar Variation:

68133

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Arg59Gly	CA219022 NM_001085428.3:c.175C>G