Allele Registry

Canonical Allele Identifier: PA116008

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003237

RCV000169048

RCV000364541

ClinVar Variation:

3091

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Glu255Lys	CA116007 NM_000487.5:c.763G>A