Allele Registry

Canonical Allele Identifier: PA915970755

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000489590

RCV002527037

ClinVar Variation:

427192

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Glu309Val	CA412174579 NM_001085427.3:c.926A>T