Allele Registry

Canonical Allele Identifier: PA2828065262

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003223

RCV001642197

ClinVar Variation:

3077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Arg204Cys	CA278036 NM_001362782.2:c.610C>T