Allele Registry

Canonical Allele Identifier: PA2825518400

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003223

RCV001642197

ClinVar Variation:

3077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078894.2:p.Arg290Cys	CA278036 NM_001085425.3:c.868C>T