Allele Registry

Canonical Allele Identifier: PA2825519240

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003231

RCV000723375

ClinVar Variation:

3085

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078895.2:p.Arg392Trp	CA278038 NM_001085426.3:c.1174C>T