Allele Registry

Canonical Allele Identifier: PA115976

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003208

RCV000058959

ClinVar Variation:

3062

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Ser98Leu	CA115971 NM_001085427.3:c.292_293delinsCT