Allele Registry

Canonical Allele Identifier: PA219059

Gene: ARSA HGNC NCBI

ClinVar Allele:

79042

ClinVar RCV:

RCV000058982

RCV000668155

ClinVar Variation:

68151

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Asp283Tyr	CA219058 NM_000487.5:c.847G>T