Allele Registry

Canonical Allele Identifier: PA2825520071

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000489590

RCV002527037

ClinVar Variation:

427192

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Glu223Val	CA412174579 NM_001085428.3:c.668A>T