Allele Registry

Canonical Allele Identifier: PA2828065169

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003217

RCV000343115

ClinVar Variation:

3071

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Ala140Val	CA278030 NM_001362782.2:c.419C>T