Allele Registry

Canonical Allele Identifier: PA219001

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058952

RCV000667096

RCV002222376

ClinVar Variation:

68122

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Cys491Gly	CA219000 NM_000487.5:c.1471T>G