Allele Registry

Canonical Allele Identifier: PA2828065181

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003218

RCV003387714

ClinVar Variation:

3072

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Pro147Thr	CA278032 NM_001362782.2:c.439C>A