Allele Registry

Canonical Allele Identifier: PA915970633

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058973

RCV003500501

ClinVar Variation:

68142

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Pro193Thr	CA219040 NM_001085427.3:c.577C>A