Allele Registry

Canonical Allele Identifier: PA2828065250

Gene: ARSA HGNC NCBI

ClinVar Allele:

79042

ClinVar RCV:

RCV000058982

RCV000668155

ClinVar Variation:

68151

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Asp197Tyr	CA219058 NM_001362782.2:c.589G>T