Allele Registry

Canonical Allele Identifier: PA2825188846

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV001172252

ClinVar Variation:

800499

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Thr276Lys	CA412175847 NM_000487.5:c.827C>A