Allele Registry

Canonical Allele Identifier: PA278029

Gene: ARSA HGNC NCBI

ClinVar Allele:

18107

ClinVar RCV:

RCV000003214

ClinVar Variation:

3068

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Pro169Arg	CA278028 NM_000487.5:c.506C>G