Allele Registry

Canonical Allele Identifier: PA2825520118

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000671936

RCV002282317

RCV002531300

ClinVar Variation:

556001

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Glu245Lys	CA412172524 NM_001085428.3:c.733G>A