Allele Registry

Canonical Allele Identifier: PA915970661

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003217

RCV000343115

ClinVar Variation:

3071

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Ala226Val	CA278030 NM_001085427.3:c.677C>T