Allele Registry

Canonical Allele Identifier: PA915970821

Gene: ARSA HGNC NCBI

ClinVar Allele:

79007

ClinVar RCV:

RCV000058946

RCV000150058

ClinVar Variation:

68116

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Arg392Gln	CA218988 NM_001085427.3:c.1175G>A