Allele Registry

Canonical Allele Identifier: PA115955

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000003191

RCV000020310

RCV000078931

RCV000249834

RCV001357207

ClinVar Variation:

3050

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Asn352Ser	CA115954 NM_000487.5:c.1055A>G