Allele Registry

Canonical Allele Identifier: PA2825518349

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003237

RCV000169048

RCV000364541

ClinVar Variation:

3091

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078894.2:p.Glu255Lys	CA116007 NM_001085425.3:c.763G>A