Allele Registry

Canonical Allele Identifier: PA2825520295

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000180165

RCV000388131

RCV003927699

ClinVar Variation:

198734

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Glu397Lys	CA247540 NM_001085428.3:c.1189G>A