Allele Registry

Canonical Allele Identifier: PA2828065320

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058999

RCV000665708

ClinVar Variation:

68167

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Ala230Thr	CA219090 NM_001362782.2:c.688G>A