Allele Registry

Canonical Allele Identifier: PA278039

Gene: ARSA HGNC NCBI

ClinVar Allele:

18124

ClinVar RCV:

RCV000003231

RCV000723375

ClinVar Variation:

3085

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Arg392Trp	CA278038 NM_000487.5:c.1174C>T