Allele Registry

Canonical Allele Identifier: PA915970668

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003218

RCV003387714

ClinVar Variation:

3072

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Pro233Thr	CA278032 NM_001085427.3:c.697C>A