Allele Registry

Canonical Allele Identifier: PA915970718

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058985

RCV000150060

ClinVar Variation:

68154

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Gly295Ser	CA219064 NM_001085427.3:c.883G>A