Allele Registry

Canonical Allele Identifier: PA915970797

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000671936

RCV002282317

RCV002531300

ClinVar Variation:

556001

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Glu331Lys	CA412172524 NM_001085427.3:c.991G>A