Allele Registry

Canonical Allele Identifier: PA115998

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003230

RCV000078936

RCV000723624

ClinVar Variation:

3084

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Glu384Lys	CA115997 NM_000487.5:c.1150G>A