Allele Registry

Canonical Allele Identifier: PA915970877

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058952

RCV000667096

RCV002222376

ClinVar Variation:

68122

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Cys491Gly	CA219000 NM_001085427.3:c.1471T>G