Allele Registry

Canonical Allele Identifier: PA915970756

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058995

RCV000695949

ClinVar Variation:

68163

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Gly310Asp	CA219082 NM_001085427.3:c.929G>A