Allele Registry

Canonical Allele Identifier: PA2825518452

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058999

RCV000665708

ClinVar Variation:

68167

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078894.2:p.Ala316Thr	CA219090 NM_001085425.3:c.946G>A