Allele Registry

Canonical Allele Identifier: PA2825518808

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003199

RCV000020317

RCV000723374

ClinVar Variation:

3054

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078895.2:p.Ser98Phe	CA115960 NM_001085426.3:c.293C>T