Allele Registry

Canonical Allele Identifier: PA915970874

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000180165

RCV000388131

RCV003927699

ClinVar Variation:

198734

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Glu483Lys	CA247540 NM_001085427.3:c.1447G>A