Allele Registry

Canonical Allele Identifier: PA1139679240

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV001172253

ClinVar Variation:

800500

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Gly311Arg	CA412174550 NM_001085427.3:c.931G>C