Allele Registry

Canonical Allele Identifier: PA2825520048

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003224

RCV000492011

ClinVar Variation:

3078

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Ser211Tyr	CA115987 NM_001085428.3:c.632C>A