Allele Registry

Canonical Allele Identifier: PA915970704

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003223

RCV001642197

ClinVar Variation:

3077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Arg290Cys	CA278036 NM_001085427.3:c.868C>T